DCT
Function
Plays a role in melanin biosynthesis (PubMed:33100333). Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2-carboxylic acid (DHICA).
Involvement in disease
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.
Pathway
Pigment biosynthesis; melanin biosynthesis.
Post-translational modifications
Glycosylated.
Sequence Similarities
Belongs to the tyrosinase family.
Cellular localization
- Melanosome membrane
- Single-pass type I membrane protein
- Melanosome
- Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38.
Alternative names
TYRP2, DCT, L-dopachrome tautomerase, DT, L-dopachrome Delta-isomerase, Tyrosinase-related protein 2, TRP-2, TRP2