Description: Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. RefSeq Summary (NM_000274): 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]. Transcript (Including UTRs) Position: hg19 chr10:126,085,872-126,107,545 Size: 21,674 Total Exon Count: 10 Strand: - Coding Region Position: hg19 chr10:126,086,511-126,100,740 Size: 14,230 Coding Exon Count: 9
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): OAT CDC HuGE Published Literature: OAT Positive Disease Associations: gyrate atrophy Related Studies:
gyrate atrophy Park JK et al. 1992, A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy., Human mutation. 1992 ;1(4):293-7.
[PubMed 1301936]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P04181
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.