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Hermansky-Pudlak syndrome 1 protein

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Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 .

Below are the list of possible Hermansky-Pudlak syndrome 1 protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Hermansky-Pudlak syndrome 1 protein

 Hermansky-Pudlak syndrome 1 protein ELISA Kit
 Hermansky-Pudlak syndrome 1 protein Recombinant
 Hermansky-Pudlak syndrome 1 protein Antibody
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 plate
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let 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: cytoplasm; cytoplasmic vesicle; integral to plasma membrane; lysosome

Molecular Function: guanyl-nucleotide exchange factor activity; protein binding; protein dimerization activity

Biological Process: lysosome organization and biogenesis

Disease: Hermansky-pudlak Syndrome 1
 HPS1 ELISA Kit
 HPS1 Recombinant
 HPS1 Antibody
 HPS ELISA Kit
 HPS Recombinant
 HPS Antibody
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Hermansky-Pudlak syndrome 1 protein homolog

 Hermansky-Pudlak syndrome 1 protein homolog ELISA Kit
 Hermansky-Pudlak syndrome 1 protein homolog Recombinant
 Hermansky-Pudlak syndrome 1 protein homolog Antibody
Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38.
 HPS1 ELISA Kit
 HPS1 Recombinant
 HPS1 Antibody
 QflA-21346 ELISA Kit
 QflA-21346 Recombinant
 QflA-21346 Antibody
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