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HPS4 May function in the pathway of organelle biogenesis. Defects in HPS4 are the cause of Hermansky-Pudlak syndrome type 4 (HPS4). 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. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 22q12.1
Cellular Component: cytoplasm; cytosol; lysosome; melanosome; membrane; platelet dense granule
Molecular Function: guanyl-nucleotide exchange factor activity; protein binding; protein dimerization activity; protein homodimerization activity; Rab GTPase binding
Biological Process: blood coagulation; hemostasis; lysosome organization and biogenesis; melanocyte differentiation; positive regulation of eye pigmentation; positive regulation of GTPase activity; protein stabilization; protein targeting
Disease: Hermansky-pudlak Syndrome 4
Reference #:  Q9NQG7 (UniProtKB)
Alt. Names/Synonyms: bK1048E9.4; bK1048E9.5; Hermansky-Pudlak syndrome 4; Hermansky-Pudlak syndrome 4 protein; HPS4; KIAA1667; LE; Light-ear protein homolog
Gene Symbols: HPS4
Molecular weight: 76,919 Da
Basal Isoelectric point: 5.26  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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