Guinea Pig Hermansky-Pudlak syndrome 6 protein (HPS6) ELISA Kit | HPS6 elisa kit
Guinea pig Hermansky-Pudlak syndrome 6 protein (HPS6) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This intronless 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 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
Uniprot Description
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 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
Chromosomal Location of Human Ortholog: 10q24.32
Cellular Component: membrane; endoplasmic reticulum; early endosome membrane
Molecular Function: GTP-dependent protein binding; Rab GTPase binding
Biological Process: organelle organization and biogenesis; melanocyte differentiation; blood coagulation
Disease: Hermansky-pudlak Syndrome 6
Research Articles on HPS6
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Product Notes
The Guinea Pig HPS6 hps6 (Catalog #AAA7233950) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7233950 ELISA Kit recognizes Guinea Pig HPS6. It is sometimes possible for the material contained within the vial of "Hermansky-Pudlak syndrome 6 protein (HPS6), 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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