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Hermansky-Pudlak syndrome 5 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. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.

Below are the list of possible Hermansky-Pudlak syndrome 5 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 5 protein

 Hermansky-Pudlak syndrome 5 protein ELISA Kit
 Hermansky-Pudlak syndrome 5 protein Recombinant
 Hermansky-Pudlak syndrome 5 protein Antibody
Also known as Hermansky-Pudlak syndrome 5 protein (Alpha-integrin-binding protein 63) (Ruby-eye protein 2 homolog) (Ru2).
HPS5: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. Defects in HPS5 are the cause of Hermansky-Pudlak syndrome type 5 (HPS5). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocut
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aneous 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. Belongs to the HPS5 family. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 11p14

Molecular Function: protein binding

Disease: Hermansky-pudlak Syndrome 5
 HPS5 ELISA Kit
 HPS5 Recombinant
 HPS5 Antibody
 AIBP63 ELISA Kit
 AIBP63 Recombinant
 AIBP63 Antibody
 KIAA1017 ELISA Kit
 KIAA1017 Recombinant
 KIAA1017 Antibody
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Hermansky-Pudlak syndrome 5 protein homolog

 Hermansky-Pudlak syndrome 5 protein homolog ELISA Kit
 Hermansky-Pudlak syndrome 5 protein homolog Recombinant
 Hermansky-Pudlak syndrome 5 protein homolog Antibody
Also known as Hermansky-Pudlak syndrome 5 protein homolog (Protein pink).
Has a role in the biogenesis of eye pigment granules. Eye pigment granules are specialized forms of late endosomes or lysos
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omes. Biogenesis of pigment granules in the eye requires molecular components required for protein delivery to lysosomes ().
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