Aliases for PMEL Gene
External Ids for PMEL Gene
Previous HGNC Symbols for PMEL Gene
Previous GeneCards Identifiers for PMEL Gene
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]
GeneCards Summary for PMEL Gene
PMEL (Premelanosome Protein) is a Protein Coding gene. Diseases associated with PMEL include Microcephaly 7, Primary, Autosomal Recessive and Gallbladder Melanoma. An important paralog of this gene is GPNMB.
UniProtKB/Swiss-Prot for PMEL Gene
Plays a central role in the biogenesis of melanosomes. Involved in the maturation of melanosomes from stage I to II. The transition from stage I melanosomes to stage II melanosomes involves an elongation of the vesicle, and the appearance within of distinct fibrillar structures. Release of the soluble form, ME20-S, could protect tumor cells from antibody mediated immunity.