OAT
Function
Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate.
Involvement in disease
Hyperornithinemia with gyrate atrophy of choroid and retina
HOGA
A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-ornithine: step 1/1.
Sequence Similarities
Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
Cellular localization
- Mitochondrion matrix
Alternative names
Ornithine delta-aminotransferase, Ornithine--oxo-acid aminotransferase, OAT