Protein Summary
This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone. The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
- ENST00000263321
- ENSP00000263321
- ENSG00000077498
- ATN
- CMM8
- OCA1
- OCA1A
- OCAIA
- SHEP3
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
trait | 0.97 | ||
chemical | 0.85 | ||
virus perturbation | 0.85 | ||
disease | 0.81 | ||
kinase perturbation | 0.81 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 2659.41 (req: < 5)
Gene RIFs: 138 (req: <= 3)
Antibodies: 774 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 2659.41 (req: >= 5)
Gene RIFs: 138 (req: > 3)
Antibodies: 774 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 15
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligands: 25
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drugs: 3