OAT Back

ornithine aminotransferase (gyrate atrophy)

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of OAT

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.

Community Annotation of OAT Add / Edit OAT: Annotations

No community annotations yet for OAT.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


OAT is highly significantly mutated in
OAT is significantly mutated in
OAT is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for OAT