Rabbit anti-Human Hermansky Pudlak Syndrome Protein 4 (HPS4) Polyclonal Antibody | anti-HPS4 antibody
Biotin-Linked Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 4 (HPS4)
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Uniprot Description
HPS4: May function in the pathway of organelle biogenesis. Defects in HPS4 are the cause of Hermansky-Pudlak syndrome type 4 (HPS4). 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.
Chromosomal Location of Human Ortholog: 22q12.1
Cellular Component: cytoplasm; cytosol; lysosome; melanosome; membrane; platelet dense granule
Molecular Function: guanyl-nucleotide exchange factor activity; protein binding; protein dimerization activity; protein homodimerization activity; Rab GTPase binding
Biological Process: blood coagulation; hemostasis; lysosome organization and biogenesis; melanocyte differentiation; positive regulation of eye pigmentation; positive regulation of GTPase activity; protein stabilization; protein targeting
Disease: Hermansky-pudlak Syndrome 4
Research Articles on HPS4
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Product Notes
The HPS4 hps4 (Catalog #AAA2096850) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Biotin-Linked Polyclonal Antibody to Hermansky Pudlak Syndrome Protein 4 (HPS4) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's Hermansky Pudlak Syndrome Protein 4 (HPS4) can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), Immunohistochemistry (IHC). Researchers should empirically determine the suitability of the HPS4 hps4 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "Hermansky Pudlak Syndrome Protein 4 (HPS4), Polyclonal Antibody" 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
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