Disease-gene associations mined from literature

Literature associating PMEL and Waardenburg syndrome type 4B

PMEL [ENSP00000402758]

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 ...

Linkouts:  STRING  Pharos  UniProt