FEATURES

FAMILY

DESCRIPTION

Also known as PMEL_HUMAN, PMEL, D12S53E, PMEL17, SILV. Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity. Heterooligomer; disulfide-linked heterooligomers of M-alpha and M-beta. Interacts with MLANA. Interacts (via luminal domain) with CD63; this is important for normal sorting of the luminal domain after proteolytic processing.

EXTERNAL LINKS

uniprot
enzyme classification
PhosphoSitePlus

PMEL

Mutations

Mutation(s) distribution

Mutations table