Disease-gene associations mined from literature

Literature associating HPS6 and Hermansky-Pudlak syndrome 6

HPS6 [ENSP00000299238]

Hermansky-Pudlak syndrome 6 protein; May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning.

Synonyms:  HPS6,  HPS6p,  hHPS6,  Q86YV9,  Q86YV9p ...

Linkouts:  STRING  Pharos  UniProt  OMIM