MMADHC cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	MMADHC
Entrez Gene ID	27249
Full Name	methylmalonic aciduria and homocystinuria, cblD type
Synonyms	C2orf25,CL25022,cblD
General protein information	Preferred Names methylmalonic aciduria and homocystinuria, cblD type Names methylmalonic aciduria and homocystinuria type D protein, mitochondrial methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria protein C2orf25, mitochondrial
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 2 Map Location: 2q23.2
Summary	This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008].
Disorder MIM:	611935
Disorder Html:	Homocystinuria, cblD type, variant 1, 277410 (3); Methylmalonic aciduria, cblD type, variant 2, 277410 (3); Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_015702.2	NP_056517.1	methylmalonic aciduria and homocystinuria type D protein, mitochondrial
NM_015702.3	NP_056517.1	methylmalonic aciduria and homocystinuria type D protein, mitochondrial

Pathways from BioSystems

Homologies

Homo sapiens (human)	MMADHC	NP_056517.1
Bos taurus (cattle)	MMADHC	NP_001029713.1
Gallus gallus (chicken)	MMADHC	NP_001008477.1
Caenorhabditis elegans (roundworm)	Y76A2B.5	NP_499801.1
	MMADHC	XP_001082223.1
Mus musculus (house mouse)	Mmadhc	NP_598600.1
Rattus norvegicus (Norway rat)	Mmadhc	NP_001004280.1
Xenopus tropicalis (tropical clawed frog)	mmadhc	NP_001016731.1
Pan troglodytes (chimpanzee)	MMADHC	XP_001135306.1
Canis lupus familiaris (dog)	MMADHC	XP_849074.1
Danio rerio (zebrafish)	zgc:92335	NP_001002453.1

Gene Ontology
Bibliography

Related articles in PubMed

Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.
Bassila C, Ghemrawi R, Flayac J, Froese DS, Baumgartner MR, Gu?ant JL, Coelho D
Biochimica et biophysica acta1863(1)103-112(2017 Jan)

Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
Yamada K, Gherasim C, Banerjee R, Koutmos M
The Journal of biological chemistry290(49)29155-66(2015 Dec)

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
Froese DS, Kopec J, Fitzpatrick F, Schuller M, McCorvie TJ, Chalk R, Plessl T, Fettelschoss V, Fowler B, Baumgartner MR, Yue WW
The Journal of biological chemistry290(49)29167-77(2015 Dec)

Characterization of functional domains of the cblD (MMADHC) gene product.
Jusufi J, Suormala T, Burda P, Fowler B, Froese DS, Baumgartner MR
Journal of inherited metabolic disease37(5)841-9(2014 Sep)

Genome-wide association study of liver enzymes in korean children.
Park TJ, Hwang JY, Go MJ, Lee HJ, Jang HB, Choi Y, Kang JH, Park KH, Choi MG, Song J, Kim BJ, Lee JY
Genomics & informatics11(3)149-54(2013 Sep)

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

analysis of crystal structure of the globular C-terminal domain of human CblD, which is sufficient for its interaction with MMADHC or CblC, and for supporting the cytoplasmic cobalamin trafficking pathway
Title: Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.

the MMACHC-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl binding site
Title: Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

specific regions of MMADHC are involved in differential regulation of adenosylcobalamin and methylcobalamin synthesis
Title: Characterization of functional domains of the cblD (MMADHC) gene product.

Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
Title: Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

The function of MMADHC is exerted through its structured C-terminal domain via interactions with MMACHC.
Title: Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.

The following MMADHC gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the MMADHC 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)
OHu26080	NM_015702.3 Latest version!	Homo sapiens metabolism of cobalamin associated D (MMADHC), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$154.50-$216.30 $309.00
View Old Accession Versions >>
OHu26080	NM_015702.2	Homo sapiens methylmalonic aciduria and homocystinuria, cblD type (MMADHC), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$154.50-$216.30 $309.00
Hide Old Accession Versions >>

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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

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

Reference Sequences (Refseq)

MMADHC ( NM_015702.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_056517.1 Homo sapiens methylmalonic aciduria and homocystinuria, cblD type (MMADHC), mRNA.

Price & Availability↑

CloneID	OHu26080
Clone ID Related Accession (Same CDS sequence)	NM_015702.2 , NM_015702.3
Accession Version	NM_015702.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 891bp) 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	2017-10-01
Organism	Homo sapiens(human)
Product	methylmalonic aciduria and homocystinuria type D protein, mitochondrial
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BU570084.1, BC000932.2, BG610637.1, BM456421.1 and AA857973.1. This sequence is a reference standard in the RefSeqGene project. On Dec 2, 2008 this sequence version replaced NM_015702.1. 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 :: SRR1803615.309521.1, SRR1163658.310013.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCCAATG TGCTTTGTAA CAGAGCCAGA CTGGTTTCCT ATCTCCCAGG ATTTTGCTCT 
TTAGTTAAAA GGGTTGTCAA TCCCAAAGCC TTTTCGACTG CAGGATCATC AGGTTCGGAT 
GAGTCTCATG TGGCTGCTGC ACCTCCAGAT ATATGCTCTC GAACAGTGTG GCCTGATGAA 
ACTATGGGAC CCTTTGGACC TCAAGATCAG AGGTTCCAGC TTCCTGGGAA CATAGGTTTT 
GATTGTCACC TCAATGGGAC TGCTTCACAG AAGAAAAGCC TGGTTCATAA AACTTTGCCT 
GATGTTCTAG CAGAACCTTT ATCAAGTGAA AGACATGAGT TTGTGATGGC ACAATATGTG 
AATGAATTTC AGGGTAATGA TGCACCTGTT GAACAAGAAA TTAACAGTGC AGAAACTTAC 
TTTGAAAGTG CCAGAGTAGA GTGTGCAATA CAGACATGTC CAGAATTGCT GCGAAAAGAT 
TTTGAATCAC TGTTTCCAGA AGTAGCTAAT GGCAAACTAA TGATTCTGAC TGTAACACAA 
AAAACTAAGA ATGATATGAC TGTTTGGAGT GAAGAAGTAG AAATTGAAAG AGAAGTGCTC 
TTAGAAAAGT TCATCAATGG TGCTAAGGAA ATTTGCTATG CTCTTCGAGC TGAGGGTTAT 
TGGGCTGACT TTATTGACCC ATCATCTGGT TTGGCATTTT TTGGACCATA TACAAACAAC 
ACTCTTTTTG AAACTGATGA ACGCTACCGA CATTTAGGAT TCTCTGTTGA TGACCTTGGA 
TGCTGTAAAG TGATTCGTCA TAGTCTCTGG GGTACCCATG TAGTTGTAGG GAGTATCTTC 
ACTAATGCAA CACCAGACAG CCATATTATG AAGAAATTAA GTGGAAATTA G

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

RefSeq	NP_056517.1
CDS	206..1096
Translation	MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPDICSRTVWPDETMGPFGPQDQRFQLPGNIGFDCHLNGTASQKKSLVHKTLPDVLAEPLSSERHEFVMAQYVNEFQGNDAPVEQEINSAETYFESARVECAIQTCPELLRKDFESLFPEVANGKLMILTVTQKTKNDMTVWSEEVEIEREVLLEKFINGAKEICYALRAEGYWADFIDPSSGLAFFGPYTNNTLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVVGSIFTNATPDSHIMKKLSGN

Target ORF information:

RefSeq Version	NM_015702.2
Organism	Homo sapiens(human)
Definition	Homo sapiens methylmalonic aciduria and homocystinuria, cblD type (MMADHC), mRNA.

Target ORF information:

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

NM_015702.2

ORF Insert Sequence:

ATGGCCAATG TGCTTTGTAA CAGAGCCAGA CTGGTTTCCT ATCTCCCAGG ATTTTGCTCT 
TTAGTTAAAA GGGTTGTCAA TCCCAAAGCC TTTTCGACTG CAGGATCATC AGGTTCGGAT 
GAGTCTCATG TGGCTGCTGC ACCTCCAGAT ATATGCTCTC GAACAGTGTG GCCTGATGAA 
ACTATGGGAC CCTTTGGACC TCAAGATCAG AGGTTCCAGC TTCCTGGGAA CATAGGTTTT 
GATTGTCACC TCAATGGGAC TGCTTCACAG AAGAAAAGCC TGGTTCATAA AACTTTGCCT 
GATGTTCTAG CAGAACCTTT ATCAAGTGAA AGACATGAGT TTGTGATGGC ACAATATGTG 
AATGAATTTC AGGGTAATGA TGCACCTGTT GAACAAGAAA TTAACAGTGC AGAAACTTAC 
TTTGAAAGTG CCAGAGTAGA GTGTGCAATA CAGACATGTC CAGAATTGCT GCGAAAAGAT 
TTTGAATCAC TGTTTCCAGA AGTAGCTAAT GGCAAACTAA TGATTCTGAC TGTAACACAA 
AAAACTAAGA ATGATATGAC TGTTTGGAGT GAAGAAGTAG AAATTGAAAG AGAAGTGCTC 
TTAGAAAAGT TCATCAATGG TGCTAAGGAA ATTTGCTATG CTCTTCGAGC TGAGGGTTAT 
TGGGCTGACT TTATTGACCC ATCATCTGGT TTGGCATTTT TTGGACCATA TACAAACAAC 
ACTCTTTTTG AAACTGATGA ACGCTACCGA CATTTAGGAT TCTCTGTTGA TGACCTTGGA 
TGCTGTAAAG TGATTCGTCA TAGTCTCTGG GGTACCCATG TAGTTGTAGG GAGTATCTTC 
ACTAATGCAA CACCAGACAG CCATATTATG AAGAAATTAA GTGGAAATTA G

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

MMADHC ( NM_015702.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_056517.1 Homo sapiens metabolism of cobalamin associated D (MMADHC), mRNA.

Price & Availability↑

CloneID	OHu26080
Clone ID Related Accession (Same CDS sequence)	NM_015702.2 , NM_015702.3
Accession Version	NM_015702.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 891bp) 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	2019-12-29
Organism	Homo sapiens(human)
Product	methylmalonic aciduria and homocystinuria type D protein, mitochondrial
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BU570084.1, BC000932.2, BG610637.1 and BM456421.1. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_015702.2. 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 :: SRR3476690.1084604.1, SRR3476690.442192.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology MANE Ensembl match :: ENST00000303319.10/ ENSP00000301920.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCCAATG TGCTTTGTAA CAGAGCCAGA CTGGTTTCCT ATCTCCCAGG ATTTTGCTCT 
TTAGTTAAAA GGGTTGTCAA TCCCAAAGCC TTTTCGACTG CAGGATCATC AGGTTCGGAT 
GAGTCTCATG TGGCTGCTGC ACCTCCAGAT ATATGCTCTC GAACAGTGTG GCCTGATGAA 
ACTATGGGAC CCTTTGGACC TCAAGATCAG AGGTTCCAGC TTCCTGGGAA CATAGGTTTT 
GATTGTCACC TCAATGGGAC TGCTTCACAG AAGAAAAGCC TGGTTCATAA AACTTTGCCT 
GATGTTCTAG CAGAACCTTT ATCAAGTGAA AGACATGAGT TTGTGATGGC ACAATATGTG 
AATGAATTTC AGGGTAATGA TGCACCTGTT GAACAAGAAA TTAACAGTGC AGAAACTTAC 
TTTGAAAGTG CCAGAGTAGA GTGTGCAATA CAGACATGTC CAGAATTGCT GCGAAAAGAT 
TTTGAATCAC TGTTTCCAGA AGTAGCTAAT GGCAAACTAA TGATTCTGAC TGTAACACAA 
AAAACTAAGA ATGATATGAC TGTTTGGAGT GAAGAAGTAG AAATTGAAAG AGAAGTGCTC 
TTAGAAAAGT TCATCAATGG TGCTAAGGAA ATTTGCTATG CTCTTCGAGC TGAGGGTTAT 
TGGGCTGACT TTATTGACCC ATCATCTGGT TTGGCATTTT TTGGACCATA TACAAACAAC 
ACTCTTTTTG AAACTGATGA ACGCTACCGA CATTTAGGAT TCTCTGTTGA TGACCTTGGA 
TGCTGTAAAG TGATTCGTCA TAGTCTCTGG GGTACCCATG TAGTTGTAGG GAGTATCTTC 
ACTAATGCAA CACCAGACAG CCATATTATG AAGAAATTAA GTGGAAATTA G

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

RefSeq	NP_056517.1
CDS	165..1055
Translation	MANVLCNRARLVSYLPGFCSLVKRVVNPKAFSTAGSSGSDESHVAAAPPDICSRTVWPDETMGPFGPQDQRFQLPGNIGFDCHLNGTASQKKSLVHKTLPDVLAEPLSSERHEFVMAQYVNEFQGNDAPVEQEINSAETYFESARVECAIQTCPELLRKDFESLFPEVANGKLMILTVTQKTKNDMTVWSEEVEIEREVLLEKFINGAKEICYALRAEGYWADFIDPSSGLAFFGPYTNNTLFETDERYRHLGFSVDDLGCCKVIRHSLWGTHVVVGSIFTNATPDSHIMKKLSGN

Target ORF information:

RefSeq Version	NM_015702.3
Organism	Homo sapiens(human)
Definition	Homo sapiens metabolism of cobalamin associated D (MMADHC), mRNA.

Target ORF information:

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

NM_015702.3

ORF Insert Sequence:

ATGGCCAATG TGCTTTGTAA CAGAGCCAGA CTGGTTTCCT ATCTCCCAGG ATTTTGCTCT 
TTAGTTAAAA GGGTTGTCAA TCCCAAAGCC TTTTCGACTG CAGGATCATC AGGTTCGGAT 
GAGTCTCATG TGGCTGCTGC ACCTCCAGAT ATATGCTCTC GAACAGTGTG GCCTGATGAA 
ACTATGGGAC CCTTTGGACC TCAAGATCAG AGGTTCCAGC TTCCTGGGAA CATAGGTTTT 
GATTGTCACC TCAATGGGAC TGCTTCACAG AAGAAAAGCC TGGTTCATAA AACTTTGCCT 
GATGTTCTAG CAGAACCTTT ATCAAGTGAA AGACATGAGT TTGTGATGGC ACAATATGTG 
AATGAATTTC AGGGTAATGA TGCACCTGTT GAACAAGAAA TTAACAGTGC AGAAACTTAC 
TTTGAAAGTG CCAGAGTAGA GTGTGCAATA CAGACATGTC CAGAATTGCT GCGAAAAGAT 
TTTGAATCAC TGTTTCCAGA AGTAGCTAAT GGCAAACTAA TGATTCTGAC TGTAACACAA 
AAAACTAAGA ATGATATGAC TGTTTGGAGT GAAGAAGTAG AAATTGAAAG AGAAGTGCTC 
TTAGAAAAGT TCATCAATGG TGCTAAGGAA ATTTGCTATG CTCTTCGAGC TGAGGGTTAT 
TGGGCTGACT TTATTGACCC ATCATCTGGT TTGGCATTTT TTGGACCATA TACAAACAAC 
ACTCTTTTTG AAACTGATGA ACGCTACCGA CATTTAGGAT TCTCTGTTGA TGACCTTGGA 
TGCTGTAAAG TGATTCGTCA TAGTCTCTGG GGTACCCATG TAGTTGTAGG GAGTATCTTC 
ACTAATGCAA CACCAGACAG CCATATTATG AAGAAATTAA GTGGAAATTA G

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

PubMed

Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.
Biochimica et biophysica acta1863(1)103-112(2017 Jan)
Bassila C,Ghemrawi R,Flayac J,Froese DS,Baumgartner MR,Gu?ant JL,Coelho D

Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
The Journal of biological chemistry290(49)29155-66(2015 Dec)
Yamada K,Gherasim C,Banerjee R,Koutmos M

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
The Journal of biological chemistry290(49)29167-77(2015 Dec)
Froese DS,Kopec J,Fitzpatrick F,Schuller M,McCorvie TJ,Chalk R,Plessl T,Fettelschoss V,Fowler B,Baumgartner MR,Yue WW

Characterization of functional domains of the cblD (MMADHC) gene product.
Journal of inherited metabolic disease37(5)841-9(2014 Sep)
Jusufi J,Suormala T,Burda P,Fowler B,Froese DS,Baumgartner MR

Genome-wide association study of liver enzymes in korean children.
Genomics & informatics11(3)149-54(2013 Sep)
Park TJ,Hwang JY,Go MJ,Lee HJ,Jang HB,Choi Y,Kang JH,Park KH,Choi MG,Song J,Kim BJ,Lee JY

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MMADHC 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:

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