Symbol: Name: ID: |
PMEL premelanosome protein GFS:789 |
Gene name: | PMEL |
Chromosome: | 12q13-q14 |
Previous Symbols: | SIL, SILV |
Previous Names: | silver (mouse homolog) like, "silver homolog (mouse)" |
Aliases: | D12S53E, SI, Pmel17, gp100 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98301 | Rat Genome Database ID: | RGD:1307513 |
HGNC ID: | HGNC:10880 | RefSeq IDs: | NM_001200053 |
Entrez Gene ID: | 6490 | Ensembl Gene ID: | ENSG00000185664 |
VEGA IDs: | OTTHUMG00000135065 | UniProt ID: | P40967 |
UCSC ID: | uc001sip.2 | OMIM ID: | 155550 |
Pubmed: | PMID8739560 | ||
CCDS IDs: | CCDSCCDS8897.1 |
PMEL 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].
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.
Products for PMEL gene
Catalog | Product Name | Application | Company |
GFS:E00789 | premelanosome protein; ELISA kit | ELISA | n/a |
GFS:A00789 | premelanosome protein; Anti | ANTIBODIES | n/a |
GFS:P00789 | premelanosome protein; Protien | Protien | n/a |