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PMEL

Premelanosome protein (PMEL), also known as gp100, P1, SI, SIL, ME20, P100, ME20M, ME20-M, PMEL17, D12S53E, melanocyte protein PMEL or silver locus protein homolog (SILV), is 100 kDa melanocyte-specific type I transmembrane glycoprotein that belongs to the PMEL/NMB family. This protein is found enriched in pigment cells of the skin and eye. It is highly expressed in melanosomes that are the melanin-producing organelles in melanocytes, playing an essential role in the structural organization of premelanosomes. Moreover, overexpression of this protein is reported in proliferating neonatal melanocytes and during tumor growth.

This protein undergoes a complex pattern of posttranslational processing and modification that is essential to the proper functioning of the protein. In detail, the transmembrane form of PMEL is modified in the secretory pathway by elaboration of N-linked oligosaccharides and addition and modification of O-linked oligosaccharides. This protein plays an important role in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes.

Gene ID: 6490
UniProt ID: P40967