L-dopachrome tautomerase

Plays a role in melanin biosynthesis (PubMed:33100333). Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA).

Albinism, oculocutaneous, 8

OCA8

A form of oculocutaneous albinism, a disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. OCA8 is an autosomal recessive form characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina.

None

The disease is caused by variants affecting the gene represented in this entry.

Pigment biosynthesis; melanin biosynthesis.

Glycosylated.

Belongs to the tyrosinase family.

• Melanosome membrane
• Single-pass type I membrane protein
• Melanosome
• Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38.

TYRP2, DCT, L-dopachrome tautomerase, DT, L-dopachrome Delta-isomerase, Tyrosinase-related protein 2, TRP-2, TRP2

• entrezGene:1638
• omim:191275
• swissprot:P40126

Proteins

Oncology

59145Da