ORF » Species Summary » Homo sapiens » Reactome » Diseases of metabolism

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検索サポート

以下のような検索ワードを入力できます：

  • Entrez Gene ID (e.g. 7157)
  • gene symbol (e.g. TP53)
  • gene name (e.g. tumor protein p53)
  • gene synonyms (e.g. FLJ92943)
  • Ensembl ID (e.g. ENSG0000141510)
  • Accession No. (e.g. NM_000546)
  • 種名は、キーワードの後に ”キーワード[species:$species]” という形式で入力できます。ここで、$speciesは種の名称（ヒトやラットなど）、または分類群id　（9606など）を入力します。

さらに検索するには こちらをクリック.


Homo sapiens (human) Diseases of metabolism (provided by Reactome)

Browse by Letter Index, Genomic Locus

45 gene

The longest variant of each gene is displayed. Click the see gene variants link to see all gene variants.


Gene Symbol Full Name
PC pyruvate carboxylase
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
LOC107986404 uncharacterized LOC107986404
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
GYG2 glycogenin 2
SFTPD surfactant protein D
MMADHC methylmalonic aciduria and homocystinuria, cblD type
POMC proopiomelanocortin
GYG1 glycogenin 1
CCDC59 coiled-coil domain containing 59
CD320 CD320 molecule
GIF gastric intrinsic factor
IDH1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic
UBC ubiquitin C
UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1
SFTPA2 surfactant protein A2
TTF1 transcription termination factor 1
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MCCC2 methylcrotonoyl-CoA carboxylase 2
CSF2RA colony stimulating factor 2 receptor alpha subunit
AMN amnion associated transmembrane protein
RPS27A ribosomal protein S27a
PCCB propionyl-CoA carboxylase beta subunit
GYS1 glycogen synthase 1
FDXR ferredoxin reductase
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
SFTPA1 surfactant protein A1
CSF2RB colony stimulating factor 2 receptor beta common subunit
SFTPC surfactant protein C
UBB ubiquitin B
PCCA propionyl-CoA carboxylase alpha subunit
MCCC1 methylcrotonoyl-CoA carboxylase 1
SFTPB surfactant protein B
TCN2 transcobalamin 2
CYP11A1 cytochrome P450 family 11 subfamily A member 1
MUT methylmalonyl-CoA mutase
SFTA3 surfactant associated 3
GYS2 glycogen synthase 2
EPM2A EPM2A, laforin glucan phosphatase
FDX1 ferredoxin 1
FDX1L ferredoxin 1 like
PPP1R3C protein phosphatase 1 regulatory subunit 3C
ACACA acetyl-CoA carboxylase alpha
MC2R melanocortin 2 receptor
CUBN cubilin
ORF
overview_MB_2022