Hermansky-Pudlak Syndrome 1 Protein (HPS1) Human Recombinant 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. 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]

HPS1: Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting. Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1). 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. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 10q23.1-q23.3

Cellular Component: integral to plasma membrane; lysosome; cytoplasmic membrane-bound vesicle; cytoplasm

Molecular Function: protein dimerization activity; protein binding

Biological Process: secretion of lysosomal enzymes; visual perception; lysosome organization and biogenesis; retina development in camera-type eye; melanocyte differentiation; blood coagulation; positive regulation of natural killer cell activation; eye pigmentation

Disease: Hermansky-pudlak Syndrome 1