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Hermansky-Pudlak syndrome 6 protein

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May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules .

Below are the list of possible Hermansky-Pudlak syndrome 6 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 6 protein

 Hermansky-Pudlak syndrome 6 protein ELISA Kit
 Hermansky-Pudlak syndrome 6 protein Recombinant
 Hermansky-Pudlak syndrome 6 protein Antibody
Also known as Hermansky-Pudlak syndrome 6 protein (Ruby-eye protein homolog) (Ru).
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 diso
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rder 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.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 10q24.32

Cellular Component: lysosomal membrane; membrane

Molecular Function: GTP-dependent protein binding; protein binding; Rab GTPase binding

Biological Process: lysosome localization; melanocyte differentiation; organelle organization and biogenesis

Disease: Hermansky-pudlak Syndrome 6
 HPS6 ELISA Kit
 HPS6 Recombinant
 HPS6 Antibody
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Hermansky-Pudlak syndrome 6 protein homolog

 Hermansky-Pudlak syndrome 6 protein homolog ELISA Kit
 Hermansky-Pudlak syndrome 6 protein homolog Recombinant
 Hermansky-Pudlak syndrome 6 protein homolog Antibody
Also known as Hermansky-Pudlak syndrome 6 protein homolog (Ruby-eye protein homolog) (Ruby-eye-like protein) (Ru).
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
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, 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.

Protein type: Unknown function

Cellular Component: lysosomal membrane; membrane

Molecular Function: GTP-dependent protein binding; Rab GTPase binding

Biological Process: blood coagulation; lysosome localization; melanocyte differentiation; organelle organization and biogenesis; pigmentation
 Hps6 ELISA Kit
 Hps6 Recombinant
 Hps6 Antibody
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