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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| OAT-20-RE | 20 (40 μL) | 200 μL |  |
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| OAT-20-OR | 20 (40 μL) | 200 μL |  |
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| OAT-20-GO | 20 (40 μL) | 200 μL |  |
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| OAT-20-GR | 20 (40 μL) | 200 μL |  |
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| OAT-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : OAT
Gene Name : Ornithine aminotransferase
Chromosome : CHR 10: 124,418,975-124,397,302
Locus : 10q26.13
Alt. Genes : FEM1B
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