Human Hermansky-Pudlak syndrome 5 ELISA Kit | HPS5 elisa kit
Human Hermansky-Pudlak syndrome 5 protein, HPS5 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Uniprot Description
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 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. Belongs to the HPS5 family. 2 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 11p14
Biological Process: pigmentation; organelle organization and biogenesis; blood coagulation
Disease: Hermansky-pudlak Syndrome 5
Research Articles on HPS5
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Product Notes
The Human HPS5 hps5 (Catalog #AAA9329622) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9329622 ELISA Kit recognizes Human HPS5. It is sometimes possible for the material contained within the vial of "Hermansky-Pudlak syndrome 5, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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