Melanocyte Protein PMEL (PMEL) Human Recombinant Protein

This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

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. Belongs to the PMEL/NMB family. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Vesicle

Chromosomal Location of Human Ortholog: 12q13-q14

Cellular Component: endoplasmic reticulum membrane; extracellular region; Golgi apparatus; integral to membrane; melanosome; plasma membrane

Molecular Function: protein binding

Biological Process: melanin biosynthetic process; melanosome organization and biogenesis