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],
Function:
Function:Could be a melanogenic enzyme. Could represent an oncofetal self-antigen that is normally expressed at low levels in quiescent adult melanocytes but overexpressed by proliferating neonatal melanocytes and during tumor growth. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity.,similarity:Belongs to the Pmel-17/NMB family.,similarity:Contains 1 PKD domain.,subcellular location:Identified by mass spectrometry in melanosome fractions from stage I to stage IV.,subcellular location:Probably product of proteolytic cleavage.,tissue specificity:Preferentially expressed in melanomas. Some expression was found in dysplastic nevi. Not found in normal tissues nor in carcinomas.,