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Hermansky-Pudlak syndrome 3 protein

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Involved in early stages of melanosome biogenesis and maturation.

Below are the list of possible Hermansky-Pudlak syndrome 3 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 3 protein

 Hermansky-Pudlak syndrome 3 protein ELISA Kit
 Hermansky-Pudlak syndrome 3 protein Recombinant
 Hermansky-Pudlak syndrome 3 protein Antibody
HPS3: Involved in early stages of melanosome biogenesis and maturation. Defects in HPS3 are the cause of Hermansky-Pudlak syndrome type 3 (HPS3). 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 defec
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ts 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Vesicle

Chromosomal Location of Human Ortholog: 3q24

Molecular Function: protein binding

Disease: Hermansky-pudlak Syndrome 3
 HPS3 ELISA Kit
 HPS3 Recombinant
 HPS3 Antibody
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Hermansky-Pudlak syndrome 3 protein homolog

 Hermansky-Pudlak syndrome 3 protein homolog ELISA Kit
 Hermansky-Pudlak syndrome 3 protein homolog Recombinant
 Hermansky-Pudlak syndrome 3 protein homolog Antibody
Also known as Hermansky-Pudlak syndrome 3 protein homolog (Cocoa protein).
HPS3: Involved in early stages of melanosome biogenesis and maturation. Defects in HPS3 are the cause of Hermansky-Pudlak syndrome type 3 (HPS3). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage po
>>>
ol 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Vesicle

Cellular Component: cytoplasm

Biological Process: organelle organization and biogenesis; pigmentation
 Hps3 ELISA Kit
 Hps3 Recombinant
 Hps3 Antibody
 Coa ELISA Kit
 Coa Recombinant
 Coa Antibody
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