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PMEL / SILV / gp100 is 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.
Gene Name: | premelanosome protein |
Synonyms: | PMEL, gp100, Melanocyte protein PMEL, Me20m/me20s, p100, PMEL17, Premelanosome protein, SIL, Silver homolog (mouse), Silver, mouse, homolog of, Silver locus protein homolog, ME20-M, Me20-m/me20-s, ME20M, Melanocyte protein mel 17, Melanocyte protein Pmel 17, Silver (mouse homolog) like, D12S53E, ME20, Melanosomal matrix protein17, SILV |
Target Sequences: | NM_006928 NP_008859.1 P40967 |
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