基因名：
PMEL
产品别名：
D12S53E； HMB-45； HMB45； ME20； ME20-M； ME20M； P1； P100； PMEL17； SI； SIL； SILV； gp100； PMEL； premelanosome protein； premelanosome protein； melanocyte protein PMEL； melanocyte protein Pmel 17； melanocyte protein mel 17； melanocytes lineage-specific antigen GP100； melanoma-associated ME20 antigen； melanosomal matrix protein17； silver locus protein homolog； silver, mouse, homolog of； 黑色素瘤关联ME20(ME20M)； 黑色素瘤相关抗原gp100；
背景信息：
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]
