This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]
Subcellular localization of OAT (and its protein):
Gene Ontology (GO) terms for OAT:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 330 Arginine and proline metabolism [PATH:hsa00330] |
| Name |
|---|
| Amino acid synthesis and interconversion (transamination) |
| Metabolism of amino acids and derivatives |
| Disease | Score | NofPmids | NofSnps | Source |
| Gyrate Atrophy | 0.334039032 | 44 | 4 | BeFree_CTD_human_GAD_MGD_UNIPROT |
| Hyperornithinemia | 0.242442977 | 9 | 60 | BeFree_CLINVAR_ORPHANET |
| Necrotizing Enterocolitis | 0.12 | 1 | 0 | CTD_human |
| Scotoma | 0.002367032 | 1 | 0 | GAD |
| Visual field defects | 0.002367032 | 1 | 0 | GAD |
| Chorioretinal degeneration | 0.002171535 | 8 | 0 | BeFree |
| Degenerative disorder | 0.001628651 | 6 | 0 | BeFree |
| Disorder of eye | 0.000814326 | 3 | 0 | BeFree |
| synovial sarcoma | 0.000814326 | 3 | 0 | BeFree |
| Unspecified visual loss | 0.000814326 | 3 | 0 | BeFree |
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