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Gene : GATM Homo sapiens

Name  ? glycine amidinotransferase Cytological Location  15q21.1
Brief Description  glycine amidinotransferase
description  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 cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
  • synonyms:
  • GATM,
  • OTTHUMG00000131427,
  • AGAT,
  • AGAT,
  • S68805,
  • NM_001482,
  • HGNC:4175,
  • AT,
  • CCDS3,
  • L-arginine:glycine amidinotransferase,
  • uc001zvc.4
  • identifiers:
  • 2628,
  • ENSG00000171766,
  • GATM

Genome feature

Region: gene ? Length: 41194  
Location: 15:45361124-45402317 reverse strand Cyto location: 15q21.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

2011 SN Ps

5 Cross References

20 Data Sets

3 Homologues

0 Located Features

90 Rna Seq Results