ornithine aminotransferase

Catalyzes the reversible interconversion of L-ornithine and 2-oxoglutarate to L-glutamate semialdehyde and L-glutamate.

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.

Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-ornithine: step 1/1.

Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.

• Mitochondrion matrix

Ornithine delta-aminotransferase, Ornithine--oxo-acid aminotransferase, OAT

• entrezGene:4942
• omim:613349
• swissprot:P04181

Proteins

Oncology

48535Da