This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]
Function:
Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.
Tissue Specificity:
Ubiquitous.
DISEASE:
Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1) [MIM:203300]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
SWISS:
Q92902
Gene ID:
3257
Database links:
Entrez Gene: 3257 Human
Entrez Gene: 192236 Mouse
Entrez Gene: 114638 Rat
Omim: 604982 Human
SwissProt: Q92902 Human
SwissProt: O08983 Mouse
Unigene: 404568 Human
Unigene: 218381 Mouse
Unigene: 17691 Rat
Hermansky－Pudlak综合征（简称HPS），是常染色体隐性遗传病，可导致出血时间延长、白化病、溶酶体胶质样沉积等病状。患者通常于30～50岁之间死于肺纤维化、出血、结肠炎等严重并发症。目前对该病仍缺乏有效的治疗办法。通过对人、小鼠、酵母等的研究发现，这是一种单基因病，但涉及到多个不同基因的突变。基因突变后，转运途径受阻，表现为黑色素体、溶酶体、血小板致密体等多种亚细胞器的生物合成或功能同时受累的病理改变。对这些HPS基因的克隆既有利于进一步阐明发病机制，也有利于建立一系列基因诊断和产前诊断方法，为将来的HPS基因治疗提供理论依据。
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