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.
Aliases： P1; SI; SIL; ME20; P100; SILV; ME20M; gp100; ME20-M; PMEL17; D12S53E
Entrez GeneID： 6490
Swissprot： P40967
WB Predicted band size： 70.2kDa
Host/Isotype： Mouse IgG1
Species Reactivity： Human
Immunogen： Purified recombinant fragment of human PMEL (AA: 25-192) expressed in E. Coli.
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