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. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. 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.