GATM (gene)

Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene.[5][6]

GATM
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGATM, AGAT, AT, CCDS3, glycine amidinotransferase, FRTS1
External IDsOMIM: 602360 MGI: 1914342 HomoloGene: 1136 GeneCards: GATM
Orthologs
SpeciesHumanMouse
Entrez

2628

67092

Ensembl

ENSG00000171766

ENSMUSG00000027199

UniProt

P50440

Q9D964

RefSeq (mRNA)

NM_001482
NM_001321015

NM_025961

RefSeq (protein)

NP_001307944
NP_001473

NP_080237

Location (UCSC)Chr 15: 45.36 – 45.4 MbChr 2: 122.42 – 122.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene encodes a mitochondrial enzyme that belongs to the Amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000171766 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000027199 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Humm A, Huber R, Mann K (Mar 1994). "The amino acid sequences of human and pig L-arginine:glycine amidinotransferase". FEBS Lett. 339 (1–2): 101–7. doi:10.1016/0014-5793(94)80394-3. PMID 8313955.
  6. "Entrez Gene: GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)".

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.