Full name: premelanosome protein

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: D12S53E; HMB-45; HMB45; ME20; ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV; gp100

Summary: 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]

Expression: Biased expression in skin (RPKM 37.5), testis (RPKM 2.4) and 1 other tissue

Gene size: 12605bp

Exon count: 12