GAMT cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	GAMT
Entrez Gene ID	2593
Full Name	guanidinoacetate N-methyltransferase
Synonyms	CCDS2,HEL-S-20,PIG2,TP53I2
General protein information	Preferred Names guanidinoacetate N-methyltransferase Names guanidinoacetate N-methyltransferase epididymis secretory protein Li 20
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 19 Map Location: 19p13.3
Summary	The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012].
Disorder MIM:	601240
Disorder Html:	Cerebral creatine deficiency syndrome 2, 612736 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_000156.6	NP_000147.1	guanidinoacetate N-methyltransferase isoform a
NM_138924.2	NP_620279.1	guanidinoacetate N-methyltransferase isoform b
NM_000156.5	NP_000147.1	guanidinoacetate N-methyltransferase isoform a
NM_138924.3	NP_620279.1	guanidinoacetate N-methyltransferase isoform b

Pathways from BioSystems

Homologies

Homo sapiens (human)	GAMT	NP_000147.1
	GAMT	XP_001117362.2
Bos taurus (cattle)	GAMT	NP_001033633.1
Danio rerio (zebrafish)	gamt	NP_001099065.1
Pan troglodytes (chimpanzee)	GAMT	XP_001172605.2
Xenopus tropicalis (tropical clawed frog)	gamt	NP_988896.1
Rattus norvegicus (Norway rat)	Gamt	NP_036925.2
Mus musculus (house mouse)	Gamt	NP_034385.1

Gene Ontology
Bibliography

Related articles in PubMed

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Sharer JD, Bodamer O, Longo N, Tortorelli S, Wamelink MM, Young S
Genetics in medicine : official journal of the American College of Medical Genetics19(2)256-263(2017 Feb)

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.
Mercimek-Mahmutoglu S, Pop A, Kanhai W, Fernandez Ojeda M, Holwerda U, Smith D, Loeber JG, Schielen PC, Salomons GS
Gene575(1)127-31(2016 Jan)

Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J
Biochimie119146-65(2015 Dec)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Measurements of creatine and guanidinoacetate in plasma are recommended for the diagnosis of AGAT and GAMT deficiency.Definitive confirmation of the diagnosis requires DNA sequencing of the appropriate gene and (if molecular analysis is ambiguous) measurement of AGAT or GAMT enzyme activity or of CRTR-mediated transport
Title: Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

The estimated incidence of GAMT deficiency is 1:250,000 newborns based on our pilot study.
Title: A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.

Data suggest that creatine is provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvement of arginine glycine amidinotransferase [AGAT] and guanidinoacetate methyl transferase [GAMT]. [REVIEW]
Title: Creatine biosynthesis and transport in health and disease.

As early diagnosis results in normal neurodevelopmental outcome, GAMT deficiency should be included in newborn screening programs to diagnose individuals at the asymptomatic stage of the disease
Title: Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

Study reports six novel pathogenic mutations in GAMT gene in patients with Guanidinoacetate methyltransferase deficiency.
Title: Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

The following GAMT gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the GAMT cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu20732	NM_000156.6 Latest version!	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$134.50-$188.30 $269.00
OHu20699	NM_138924.3 Latest version!	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$216.30 $309.00
View Old Accession Versions >>
OHu20732	NM_000156.5	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$134.50-$188.30 $269.00
OHu20699	NM_138924.2	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$216.30 $309.00
Hide Old Accession Versions >>

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***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

GAMT ( NM_000156.6 ) cDNA ORF clone, Homo sapiens(human) -> NP_000147.1 Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu20732
Clone ID Related Accession (Same CDS sequence)	NM_000156.6 , NM_000156.5
Accession Version	NM_000156.6 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 711bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-10-07
Organism	Homo sapiens(human)
Product	guanidinoacetate N-methyltransferase isoform a
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC005329.1 and BC016760.2. This sequence is a reference standard in the RefSeqGene project. On May 17, 2019 this sequence version replaced NM_000156.5. Transcript Variant: This variant (1) is the longer transcript but encodes the shorter isoform (a). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138522.687271.1, DRR138524.802058.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000252288.8/ ENSP00000252288.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##

ATGAGCGCCC CCAGCGCGAC CCCCATCTTC GCGCCCGGCG AGAACTGCAG CCCCGCGTGG 
GGGGCGGCGC CCGCGGCCTA CGACGCAGCG GACACGCACC TGCGCATCCT GGGCAAGCCG 
GTGATGGAGC GCTGGGAGAC CCCCTATATG CACGCGCTGG CCGCCGCCGC CTCCTCCAAA 
GGGGGCCGGG TCCTGGAGGT GGGCTTTGGC ATGGCCATCG CAGCGTCAAA GGTGCAGGAG 
GCGCCCATTG ATGAGCATTG GATCATCGAG TGCAATGACG GCGTCTTCCA GCGGCTCCGG 
GACTGGGCCC CACGGCAGAC ACACAAGGTC ATCCCCTTGA AAGGCCTGTG GGAGGATGTG 
GCACCCACCC TGCCTGACGG TCACTTTGAT GGGATCCTGT ACGACACGTA CCCACTCTCG 
GAGGAGACCT GGCACACACA CCAGTTCAAC TTCATCAAGA ACCACGCCTT TCGCCTGCTG 
AAGCCGGGGG GCGTCCTCAC CTACTGCAAC CTCACCTCCT GGGGGGAGCT GATGAAGTCC 
AAGTACTCAG ACATCACCAT CATGTTTGAG GAGACGCAGG TGCCCGCGCT GCTGGAGGCC 
GGCTTCCGGA GGGAGAACAT CCGTACGGAG GTGATGGCGC TGGTCCCACC GGCCGACTGC 
CGCTACTACG CCTTCCCACA GATGATCACG CCCCTGGTGA CCAAAGGCTG A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_000147.1
CDS	67..777
Translation	MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG

Target ORF information:

RefSeq Version	NM_000156.6
Organism	Homo sapiens(human)
Definition	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000156.6

ORF Insert Sequence:

ATGAGCGCCC CCAGCGCGAC CCCCATCTTC GCGCCCGGCG AGAACTGCAG CCCCGCGTGG 
GGGGCGGCGC CCGCGGCCTA CGACGCAGCG GACACGCACC TGCGCATCCT GGGCAAGCCG 
GTGATGGAGC GCTGGGAGAC CCCCTATATG CACGCGCTGG CCGCCGCCGC CTCCTCCAAA 
GGGGGCCGGG TCCTGGAGGT GGGCTTTGGC ATGGCCATCG CAGCGTCAAA GGTGCAGGAG 
GCGCCCATTG ATGAGCATTG GATCATCGAG TGCAATGACG GCGTCTTCCA GCGGCTCCGG 
GACTGGGCCC CACGGCAGAC ACACAAGGTC ATCCCCTTGA AAGGCCTGTG GGAGGATGTG 
GCACCCACCC TGCCTGACGG TCACTTTGAT GGGATCCTGT ACGACACGTA CCCACTCTCG 
GAGGAGACCT GGCACACACA CCAGTTCAAC TTCATCAAGA ACCACGCCTT TCGCCTGCTG 
AAGCCGGGGG GCGTCCTCAC CTACTGCAAC CTCACCTCCT GGGGGGAGCT GATGAAGTCC 
AAGTACTCAG ACATCACCAT CATGTTTGAG GAGACGCAGG TGCCCGCGCT GCTGGAGGCC 
GGCTTCCGGA GGGAGAACAT CCGTACGGAG GTGATGGCGC TGGTCCCACC GGCCGACTGC 
CGCTACTACG CCTTCCCACA GATGATCACG CCCCTGGTGA CCAAAGGCTG A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

GAMT ( NM_000156.5 ) cDNA ORF clone, Homo sapiens(human) -> NP_000147.1 Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu20732
Clone ID Related Accession (Same CDS sequence)	NM_000156.6 , NM_000156.5
Accession Version	NM_000156.5	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 711bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-02-22
Organism	Homo sapiens(human)
Product	guanidinoacetate N-methyltransferase isoform a
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC005329.1 and BC016760.2. This sequence is a reference standard in the RefSeqGene project. On Feb 11, 2012 this sequence version replaced NM_000156.4. Transcript Variant: This variant (1) is the longer transcript but encodes the shorter isoform (a). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279866.227.1, SRR1163657.287485.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END##

ATGAGCGCCC CCAGCGCGAC CCCCATCTTC GCGCCCGGCG AGAACTGCAG CCCCGCGTGG 
GGGGCGGCGC CCGCGGCCTA CGACGCAGCG GACACGCACC TGCGCATCCT GGGCAAGCCG 
GTGATGGAGC GCTGGGAGAC CCCCTATATG CACGCGCTGG CCGCCGCCGC CTCCTCCAAA 
GGGGGCCGGG TCCTGGAGGT GGGCTTTGGC ATGGCCATCG CAGCGTCAAA GGTGCAGGAG 
GCGCCCATTG ATGAGCATTG GATCATCGAG TGCAATGACG GCGTCTTCCA GCGGCTCCGG 
GACTGGGCCC CACGGCAGAC ACACAAGGTC ATCCCCTTGA AAGGCCTGTG GGAGGATGTG 
GCACCCACCC TGCCTGACGG TCACTTTGAT GGGATCCTGT ACGACACGTA CCCACTCTCG 
GAGGAGACCT GGCACACACA CCAGTTCAAC TTCATCAAGA ACCACGCCTT TCGCCTGCTG 
AAGCCGGGGG GCGTCCTCAC CTACTGCAAC CTCACCTCCT GGGGGGAGCT GATGAAGTCC 
AAGTACTCAG ACATCACCAT CATGTTTGAG GAGACGCAGG TGCCCGCGCT GCTGGAGGCC 
GGCTTCCGGA GGGAGAACAT CCGTACGGAG GTGATGGCGC TGGTCCCACC GGCCGACTGC 
CGCTACTACG CCTTCCCACA GATGATCACG CCCCTGGTGA CCAAAGGCTG A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_000147.1
CDS	95..805
Translation	MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTKG

Target ORF information:

RefSeq Version	NM_000156.5
Organism	Homo sapiens(human)
Definition	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_000156.5

ORF Insert Sequence:

ATGAGCGCCC CCAGCGCGAC CCCCATCTTC GCGCCCGGCG AGAACTGCAG CCCCGCGTGG 
GGGGCGGCGC CCGCGGCCTA CGACGCAGCG GACACGCACC TGCGCATCCT GGGCAAGCCG 
GTGATGGAGC GCTGGGAGAC CCCCTATATG CACGCGCTGG CCGCCGCCGC CTCCTCCAAA 
GGGGGCCGGG TCCTGGAGGT GGGCTTTGGC ATGGCCATCG CAGCGTCAAA GGTGCAGGAG 
GCGCCCATTG ATGAGCATTG GATCATCGAG TGCAATGACG GCGTCTTCCA GCGGCTCCGG 
GACTGGGCCC CACGGCAGAC ACACAAGGTC ATCCCCTTGA AAGGCCTGTG GGAGGATGTG 
GCACCCACCC TGCCTGACGG TCACTTTGAT GGGATCCTGT ACGACACGTA CCCACTCTCG 
GAGGAGACCT GGCACACACA CCAGTTCAAC TTCATCAAGA ACCACGCCTT TCGCCTGCTG 
AAGCCGGGGG GCGTCCTCAC CTACTGCAAC CTCACCTCCT GGGGGGAGCT GATGAAGTCC 
AAGTACTCAG ACATCACCAT CATGTTTGAG GAGACGCAGG TGCCCGCGCT GCTGGAGGCC 
GGCTTCCGGA GGGAGAACAT CCGTACGGAG GTGATGGCGC TGGTCCCACC GGCCGACTGC 
CGCTACTACG CCTTCCCACA GATGATCACG CCCCTGGTGA CCAAAGGCTG A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

GAMT ( NM_138924.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_620279.1 Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu20699
Clone ID Related Accession (Same CDS sequence)	NM_138924.2 , NM_138924.3
Accession Version	NM_138924.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 810bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-02-22
Organism	Homo sapiens(human)
Product	guanidinoacetate N-methyltransferase isoform b
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC005329.1, AK289465.1 and BM994704.1. On Feb 11, 2012 this sequence version replaced NM_138924.1. Transcript Variant: This variant (2) lacks the 3'-most exon and fails to utilize the 3' splice donor site of the penultimate exon as compared to transcript variant 1. As a result, variant 2 encodes isoform b, which is longer and contains a distinct C-terminus, compared to isoform a. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK289465.1, SRR1163657.227549.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END##

ATGAGCGCCC CCAGCGCGAC CCCCATCTTC GCGCCCGGCG AGAACTGCAG CCCCGCGTGG 
GGGGCGGCGC CCGCGGCCTA CGACGCAGCG GACACGCACC TGCGCATCCT GGGCAAGCCG 
GTGATGGAGC GCTGGGAGAC CCCCTATATG CACGCGCTGG CCGCCGCCGC CTCCTCCAAA 
GGGGGCCGGG TCCTGGAGGT GGGCTTTGGC ATGGCCATCG CAGCGTCAAA GGTGCAGGAG 
GCGCCCATTG ATGAGCATTG GATCATCGAG TGCAATGACG GCGTCTTCCA GCGGCTCCGG 
GACTGGGCCC CACGGCAGAC ACACAAGGTC ATCCCCTTGA AAGGCCTGTG GGAGGATGTG 
GCACCCACCC TGCCTGACGG TCACTTTGAT GGGATCCTGT ACGACACGTA CCCACTCTCG 
GAGGAGACCT GGCACACACA CCAGTTCAAC TTCATCAAGA ACCACGCCTT TCGCCTGCTG 
AAGCCGGGGG GCGTCCTCAC CTACTGCAAC CTCACCTCCT GGGGGGAGCT GATGAAGTCC 
AAGTACTCAG ACATCACCAT CATGTTTGAG GTGCGCCCAC CTGAAGTTCC CCATGGGTCT 
CCAGGAAGTG ACCTTGGATG GGGGTGGGAA GGGGCTGCTG GAGCCACCTT GCTACCTGGG 
GAGGGTCCCT TCCTGACCCC CTGGGTGGGC TGGACTGTGC TGGTTCATTT AGAAATCAAA 
GTCCTTTGCC TGGCGCAGTG GCTGCCAGGA GCAGTGGCTC AGGTCTATAA TCCCAGCACT 
GTGGAAGGCC GAGGTGGGCA GATTGCTTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_620279.1
CDS	95..904
Translation	MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIKVLCLAQWLPGAVAQVYNPSTVEGRGGQIA

Target ORF information:

RefSeq Version	NM_138924.2
Organism	Homo sapiens(human)
Definition	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_138924.2

ORF Insert Sequence:

ATGAGCGCCC CCAGCGCGAC CCCCATCTTC GCGCCCGGCG AGAACTGCAG CCCCGCGTGG 
GGGGCGGCGC CCGCGGCCTA CGACGCAGCG GACACGCACC TGCGCATCCT GGGCAAGCCG 
GTGATGGAGC GCTGGGAGAC CCCCTATATG CACGCGCTGG CCGCCGCCGC CTCCTCCAAA 
GGGGGCCGGG TCCTGGAGGT GGGCTTTGGC ATGGCCATCG CAGCGTCAAA GGTGCAGGAG 
GCGCCCATTG ATGAGCATTG GATCATCGAG TGCAATGACG GCGTCTTCCA GCGGCTCCGG 
GACTGGGCCC CACGGCAGAC ACACAAGGTC ATCCCCTTGA AAGGCCTGTG GGAGGATGTG 
GCACCCACCC TGCCTGACGG TCACTTTGAT GGGATCCTGT ACGACACGTA CCCACTCTCG 
GAGGAGACCT GGCACACACA CCAGTTCAAC TTCATCAAGA ACCACGCCTT TCGCCTGCTG 
AAGCCGGGGG GCGTCCTCAC CTACTGCAAC CTCACCTCCT GGGGGGAGCT GATGAAGTCC 
AAGTACTCAG ACATCACCAT CATGTTTGAG GTGCGCCCAC CTGAAGTTCC CCATGGGTCT 
CCAGGAAGTG ACCTTGGATG GGGGTGGGAA GGGGCTGCTG GAGCCACCTT GCTACCTGGG 
GAGGGTCCCT TCCTGACCCC CTGGGTGGGC TGGACTGTGC TGGTTCATTT AGAAATCAAA 
GTCCTTTGCC TGGCGCAGTG GCTGCCAGGA GCAGTGGCTC AGGTCTATAA TCCCAGCACT 
GTGGAAGGCC GAGGTGGGCA GATTGCTTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

GAMT ( NM_138924.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_620279.1 Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu20699
Clone ID Related Accession (Same CDS sequence)	NM_138924.2 , NM_138924.3
Accession Version	NM_138924.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 810bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-10-07
Organism	Homo sapiens(human)
Product	guanidinoacetate N-methyltransferase isoform b
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK289465.1, AC005329.1 and BM994704.1. On May 31, 2019 this sequence version replaced NM_138924.2. Transcript Variant: This variant (2) lacks the 3'-most exon and fails to utilize the 3' splice donor site of the penultimate exon as compared to transcript variant 1. As a result, variant 2 encodes isoform b, which is longer and contains a distinct C-terminus, compared to isoform a. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK289465.1, SRR1163657.227549.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END##

ATGAGCGCCC CCAGCGCGAC CCCCATCTTC GCGCCCGGCG AGAACTGCAG CCCCGCGTGG 
GGGGCGGCGC CCGCGGCCTA CGACGCAGCG GACACGCACC TGCGCATCCT GGGCAAGCCG 
GTGATGGAGC GCTGGGAGAC CCCCTATATG CACGCGCTGG CCGCCGCCGC CTCCTCCAAA 
GGGGGCCGGG TCCTGGAGGT GGGCTTTGGC ATGGCCATCG CAGCGTCAAA GGTGCAGGAG 
GCGCCCATTG ATGAGCATTG GATCATCGAG TGCAATGACG GCGTCTTCCA GCGGCTCCGG 
GACTGGGCCC CACGGCAGAC ACACAAGGTC ATCCCCTTGA AAGGCCTGTG GGAGGATGTG 
GCACCCACCC TGCCTGACGG TCACTTTGAT GGGATCCTGT ACGACACGTA CCCACTCTCG 
GAGGAGACCT GGCACACACA CCAGTTCAAC TTCATCAAGA ACCACGCCTT TCGCCTGCTG 
AAGCCGGGGG GCGTCCTCAC CTACTGCAAC CTCACCTCCT GGGGGGAGCT GATGAAGTCC 
AAGTACTCAG ACATCACCAT CATGTTTGAG GTGCGCCCAC CTGAAGTTCC CCATGGGTCT 
CCAGGAAGTG ACCTTGGATG GGGGTGGGAA GGGGCTGCTG GAGCCACCTT GCTACCTGGG 
GAGGGTCCCT TCCTGACCCC CTGGGTGGGC TGGACTGTGC TGGTTCATTT AGAAATCAAA 
GTCCTTTGCC TGGCGCAGTG GCTGCCAGGA GCAGTGGCTC AGGTCTATAA TCCCAGCACT 
GTGGAAGGCC GAGGTGGGCA GATTGCTTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_620279.1
CDS	67..876
Translation	MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEVRPPEVPHGSPGSDLGWGWEGAAGATLLPGEGPFLTPWVGWTVLVHLEIKVLCLAQWLPGAVAQVYNPSTVEGRGGQIA

Target ORF information:

RefSeq Version	NM_138924.3
Organism	Homo sapiens(human)
Definition	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_138924.3

ORF Insert Sequence:

ATGAGCGCCC CCAGCGCGAC CCCCATCTTC GCGCCCGGCG AGAACTGCAG CCCCGCGTGG 
GGGGCGGCGC CCGCGGCCTA CGACGCAGCG GACACGCACC TGCGCATCCT GGGCAAGCCG 
GTGATGGAGC GCTGGGAGAC CCCCTATATG CACGCGCTGG CCGCCGCCGC CTCCTCCAAA 
GGGGGCCGGG TCCTGGAGGT GGGCTTTGGC ATGGCCATCG CAGCGTCAAA GGTGCAGGAG 
GCGCCCATTG ATGAGCATTG GATCATCGAG TGCAATGACG GCGTCTTCCA GCGGCTCCGG 
GACTGGGCCC CACGGCAGAC ACACAAGGTC ATCCCCTTGA AAGGCCTGTG GGAGGATGTG 
GCACCCACCC TGCCTGACGG TCACTTTGAT GGGATCCTGT ACGACACGTA CCCACTCTCG 
GAGGAGACCT GGCACACACA CCAGTTCAAC TTCATCAAGA ACCACGCCTT TCGCCTGCTG 
AAGCCGGGGG GCGTCCTCAC CTACTGCAAC CTCACCTCCT GGGGGGAGCT GATGAAGTCC 
AAGTACTCAG ACATCACCAT CATGTTTGAG GTGCGCCCAC CTGAAGTTCC CCATGGGTCT 
CCAGGAAGTG ACCTTGGATG GGGGTGGGAA GGGGCTGCTG GAGCCACCTT GCTACCTGGG 
GAGGGTCCCT TCCTGACCCC CTGGGTGGGC TGGACTGTGC TGGTTCATTT AGAAATCAAA 
GTCCTTTGCC TGGCGCAGTG GCTGCCAGGA GCAGTGGCTC AGGTCTATAA TCCCAGCACT 
GTGGAAGGCC GAGGTGGGCA GATTGCTTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Genetics in medicine : official journal of the American College of Medical Genetics19(2)256-263(2017 Feb)
Sharer JD,Bodamer O,Longo N,Tortorelli S,Wamelink MM,Young S

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.
Gene575(1)127-31(2016 Jan)
Mercimek-Mahmutoglu S,Pop A,Kanhai W,Fernandez Ojeda M,Holwerda U,Smith D,Loeber JG,Schielen PC,Salomons GS

Creatine biosynthesis and transport in health and disease.
Biochimie119146-65(2015 Dec)
Joncquel-Chevalier Curt M,Voicu PM,Fontaine M,Dessein AF,Porchet N,Mention-Mulliez K,Dobbelaere D,Soto-Ares G,Cheillan D,Vamecq J

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GAMT cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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