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]
Function:
Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in HPS4 gene as well as several others can cause this syndrome. HPS4 appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Five transcript variants encoding different isoforms have been found for this gene. In addition, transcript variants utilizing alternative polyadenylation signals exist.
Subcellular Location:
lysosome, melanosome, membrane fraction and platelet dense granule
SWISS:
Q9NQG7
Gene ID:
89781
Database links:
Entrez Gene: 89781 Human
Omim: 606682 Human
SwissProt: Q6P1K3 Human
SwissProt: Q9NQG7 Human
Unigene: 474436 Human
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