rs11461
This is a synonymous variant in the OAT gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
Ornithine aminotransferase deficiency (GACR); not specified
View on ClinVar →About 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. [provided by RefSeq, Jan 2010]
View all OAT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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