rs386833597
This is a variant in the OAT gene that changes a cysteine to an tyrosine.
▶ClinVar annotation
Ornithine aminotransferase deficiency (GACR)
View on ClinVar →▶Research that mentions this SNP (1)
▶Functional Analysis of Missense Mutations ofOAT, Causing Gyrate Atrophy of Choroid and RetinaFunctionalN=10Mara Doimo et al.(2013)· Human Mutation
This functional study characterized 9 OAT gene mutations (4 novel, 5 previously reported) causing gyrate atrophy in 10 patients from 8 kindreds. Using yeast complementation and biochemical assays, the authors demonstrated that mutations markedly reduced enzymatic activity and affected protein assembly/stability, with variable effects on yeast growth. No correlation was found between residual enzymatic activity and age of onset or B6 responsiveness, suggesting other modifying factors determine phenotype severity.
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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