Aliases for HPS4 Gene
External Ids for HPS4 Gene
Previous GeneCards Identifiers for HPS4 Gene
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. [provided by RefSeq, Aug 2012]
GeneCards Summary for HPS4 Gene
HPS4 (HPS4, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 2) is a Protein Coding gene. Diseases associated with HPS4 include Hermansky-Pudlak Syndrome 4 and Hermansky-Pudlak Syndrome With Pulmonary Fibrosis. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport. GO annotations related to this gene include protein homodimerization activity and protein dimerization activity.
UniProtKB/Swiss-Prot for HPS4 Gene
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 (PubMed:23084991).