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HPS6 May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Defects in HPS6 are the cause of Hermansky-Pudlak syndrome type 6 (HPS6). 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. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 10q24.32
Cellular Component: early endosome membrane; endoplasmic reticulum; lysosomal membrane; membrane
Molecular Function: GTP-dependent protein binding; protein binding; Rab GTPase binding
Biological Process: blood coagulation; lysosome localization; melanocyte differentiation; organelle organization and biogenesis
Disease: Hermansky-pudlak Syndrome 6
Reference #:  Q86YV9 (UniProtKB)
Alt. Names/Synonyms: FLJ22501; Hermansky-Pudlak syndrome 6; Hermansky-Pudlak syndrome 6 protein; Hermansky-Pudlak syndrome-6 protein (HPS6); HPS6; MGC20522; RP11-302K17.1; Ru; Ruby-eye protein homolog
Gene Symbols: HPS6
Molecular weight: 82,975 Da
Basal Isoelectric point: 5.92  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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