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. GO annotations related to this gene include protein homodimerization activity and protein dimerization activity.
UniProtKB/Swiss-Prot for HPS4 Gene
May function in the pathway of organelle biogenesis.