OAT Chromosome 10
Ornithine aminotransferase
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What This Gene Does
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 Info
Gene Group
Transaminases
Locus Type
gene with protein product
Location
10q26.13
Ensembl
ENSG00000065154
Associated Conditions (14)
Ornithine aminotransferase deficiency
Hyperornithinemia
Inborn genetic diseases
OAT-related disorder
Ovarian serous cystadenocarcinoma
Lung cancer
Uterine corpus endometrial carcinoma
Sarcoma
Optic atrophy
Abnormal choroid morphology
Visual field defect
Pain
Retinal dystrophy
Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia
Key Variants
RS1043163922
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
Health Risk
RS121965039
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, Hyperornithinemia, Ornithine aminotransferase deficiency
Health Risk
RS121965048
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
Health Risk
RS140786333
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, Inborn genetic diseases, OAT-related disorder
Health Risk
RS143526711
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, OAT-related disorder, Ornithine aminotransferase deficiency
Health Risk
RS146882296
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
Health Risk
RS148433929
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, Inborn genetic diseases, Ornithine aminotransferase deficiency
Health Risk
RS1800456
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, Ovarian serous cystadenocarcinoma, Lung cancer
Health Risk
RS199957428
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, Inborn genetic diseases, Ornithine aminotransferase deficiency
Health Risk
RS201864147
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
Health Risk
RS372850085
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
Health Risk
RS376051303
Conflicting classifications of pathogenicity
Ornithine aminotransferase deficiency, OAT-related disorder, Ornithine aminotransferase deficiency
Health Risk
All Variants (144)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2494525637 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS267606923 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833599 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833608 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833611 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833612 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Retinal dystrophy, Ornithine aminotransferase deficiency |
| RS386833613 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833617 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833620 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833623 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS752974288 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS759979499 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS780716161 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS890106099 | Health Risk | Pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS11553554 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965036 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Retinal dystrophy, Ornithine aminotransferase deficiency |
| RS121965040 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965042 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965044 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965047 | Health Risk | Pathogenic/Likely pathogenic | Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia, Ornithine aminotransferase deficiency, Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia |
| RS121965051 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Hyperornithinemia, Ornithine aminotransferase deficiency |
| RS121965053 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS121965057 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Retinal dystrophy, Ornithine aminotransferase deficiency |
| RS121965059 | Health Risk | Pathogenic/Likely pathogenic | Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia, Ornithine aminotransferase deficiency, Hyperornithinemia |
| RS1432416419 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS1468939642 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS1951417940 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS1951458291 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS2134456170 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS2134456707 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS2134456729 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS2134476898 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS2494464522 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS2494523429 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS267606924 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS267606925 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833596 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833597 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833598 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Hyperornithinemia, Ornithine aminotransferase deficiency |
| RS386833600 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833609 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833618 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS386833621 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |
| RS750535638 | Health Risk | Pathogenic/Likely pathogenic | Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency |