Literature associating PMEL and Waardenburg syndrome type 4B
Melanocytes lineage-specific antigen GP100; 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.
Synonyms: PMEL, F8VUB1, F8VXH8, F8VYZ1, F8VZC6 ...