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RNA tissue category: Group enriched (cervix, uterine, endometrium, skin)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (retina)
GENE INFORMATION
Gene name
PMEL (HGNC Symbol)
Synonyms
D12S53E, gp100, Pmel17, SI, SIL, SILV
Description
Premelanosome protein (HGNC Symbol)
Entrez gene 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]
