Guinea Pig Hermansky-Pudlak syndrome 1 protein (HPS1) ELISA Kit | HPS1 elisa kit
Guinea pig Hermansky-Pudlak syndrome 1 protein (HPS1) 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. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]
Uniprot Description
HPS1: Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting. Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1). 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. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 10q23.1-q23.3
Cellular Component: integral to plasma membrane; lysosome; cytoplasmic membrane-bound vesicle; cytoplasm
Molecular Function: protein dimerization activity; protein binding
Biological Process: secretion of lysosomal enzymes; visual perception; lysosome organization and biogenesis; retina development in camera-type eye; melanocyte differentiation; blood coagulation; positive regulation of natural killer cell activation; eye pigmentation
Disease: Hermansky-pudlak Syndrome 1
Research Articles on HPS1
Similar Products
Product Notes
The Guinea Pig HPS1 hps1 (Catalog #AAA7207438) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7207438 ELISA Kit recognizes Guinea Pig HPS1. It is sometimes possible for the material contained within the vial of "Hermansky-Pudlak syndrome 1 protein (HPS1), 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
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
