Guinea Pig Hermansky-Pudlak syndrome 3 protein (HPS3) ELISA Kit | HPS3 elisa kit
Guinea pig Hermansky-Pudlak syndrome 3 protein (HPS3) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]
Uniprot Description
HPS3: Involved in early stages of melanosome biogenesis and maturation. Defects in HPS3 are the cause of Hermansky-Pudlak syndrome type 3 (HPS3). 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. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Vesicle
Chromosomal Location of Human Ortholog: 3q24
Biological Process: pigmentation; organelle organization and biogenesis
Disease: Hermansky-pudlak Syndrome 3
Research Articles on HPS3
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Product Notes
The Guinea Pig HPS3 hps3 (Catalog #AAA7235331) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7235331 ELISA Kit recognizes Guinea Pig HPS3. It is sometimes possible for the material contained within the vial of "Hermansky-Pudlak syndrome 3 protein (HPS3), 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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