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Hermansky-Pudlak syndrome 4 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 4 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 4 protein

 Hermansky-Pudlak syndrome 4 protein ELISA Kit
 Hermansky-Pudlak syndrome 4 protein Recombinant
 Hermansky-Pudlak syndrome 4 protein Antibody
Also known as Hermansky-Pudlak syndrome 4 protein (Light-ear protein homolog).
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 defici
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ency, 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.

Chromosomal Location of Human Ortholog: 22cen-q12.3

Cellular Component: cytoplasm; 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: hemostasis; lysosome organization and biogenesis; positive regulation of eye pigmentation; protein stabilization; protein targeting

Disease: Hermansky-pudlak Syndrome 4
 HPS4 ELISA Kit
 HPS4 Recombinant
 HPS4 Antibody
 KIAA1667 ELISA Kit
 KIAA1667 Recombinant
 KIAA1667 Antibody
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Hermansky-Pudlak syndrome 4 protein homolog

 Hermansky-Pudlak syndrome 4 protein homolog ELISA Kit
 Hermansky-Pudlak syndrome 4 protein homolog Recombinant
 Hermansky-Pudlak syndrome 4 protein homolog Antibody
Also known as Hermansky-Pudlak syndrome 4 protein homolog (Light-ear protein) (Le protein).
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 storag
>>>
e 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.

Cellular Component: cytoplasm; cytoplasmic vesicle; lysosome; melanosome; membrane; platelet dense granule

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

Biological Process: blood coagulation; lysosome organization and biogenesis; melanocyte differentiation; organelle organization and biogenesis; protein stabilization; protein targeting
 Hps4 ELISA Kit
 Hps4 Recombinant
 Hps4 Antibody
 Le ELISA Kit
 Le Recombinant
 Le Antibody
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