Recombinant Human Hermansky-Pudlak syndrome 4 protein (HPS4)

Uniprot Id

Q9NQG7

Target Species

Human

Target Name

HPS4

Target Full Name

BLOC-3 complex member HPS4

Target Function

Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38.

Target Involvement

Hermansky-Pudlak syndrome 4 (HPS4)

Target Synonyms

HPS4; KIAA1667; Hermansky-Pudlak syndrome 4 protein; Light-ear protein homolog

Target Background

This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants.