GATM (gene)

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GATM
Protein GATM PDB 1jdw.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGATM, AGAT, AT, CCDS3, glycine amidinotransferase
External IDsMGI: 1914342 HomoloGene: 1136 GeneCards: GATM
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for GATM
Genomic location for GATM
Band15q21.1Start45,361,124 bp[1]
End45,402,327 bp[1]
RNA expression pattern
PBB GE GATM 203178 at fs.png

PBB GE GATM 216733 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001482
NM_001321015

NM_025961

RefSeq (protein)

NP_001307944
NP_001473

NP_080237

Location (UCSC)Chr 15: 45.36 – 45.4 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene.[4][5]

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.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171766 - Ensembl, May 2017
  2. ^ "Human PubMed Reference:".
  3. ^ "Mouse PubMed Reference:".
  4. ^ 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.
  5. ^ a b "Entrez Gene: GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)".

Further reading[edit]

External links[edit]