Gene

GATM

Species
Homo sapiens
Symbol
GATM
Name
glycine amidinotransferase
Synonyms
  • AGAT
  • AT
Biotype
protein coding gene
Automated Description
Enables glycine amidinotransferase activity. Involved in creatine metabolic process; learning or memory; and muscle atrophy. Acts upstream of or within creatine biosynthetic process. Located in mitochondrial intermembrane space. Implicated in AGAT deficiency and Fanconi renotubular syndrome 1. Biomarker of congestive heart failure and pre-eclampsia.
RGD 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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10488
No data available
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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    Disease Associations

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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            45.365M45.370M45.375M45.380M45.385M45.390M45.395M45.400M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            GATM molecule type
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              Genetic Interactions

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