Purified recombinant fragment of HPS-1 expressed in E. Coli.

HPS-1 Monoclonal Antibody detects endogenous levels of HPS-1 protein.

HPS1

Hermansky-Pudlak syndrome 1 protein

HPS1 ;
HPS ;
Hermansky-Pudlak syndrome 1 protein

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. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015],

Alternative products:Additional isoforms seem to exist,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.,Function:Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.,online information:HPS1 mutations,online information:Retina International's Scientific Newsletter,tissue specificity:Ubiquitous.,

cytoplasm,lysosome,integral component of plasma membrane,cytoplasmic, membrane-bounded vesicle,BLOC-3 complex,cytoplasmic vesicle,

Ubiquitous.