The HPS3 Polyclonal Antibody (PACO09790) is a valuable tool for researchers studying the HPS3 protein, which plays a critical role in Hermansky-Pudlak syndrome (HPS), a rare genetic disorder characterized by albinism, vision impairment, and bleeding disorders. This polyclonal antibody, developed using rabbits, exhibits high reactivity with human samples and has been validated for use in Western blot applications. It specifically binds to the HPS3 protein, enabling accurate detection and analysis in a variety of cell types.HPS3 is a key component of the BLOC-2 complex, which is involved in intracellular protein trafficking and organelle biogenesis.
Mutations in the HPS3 gene result in the dysfunction of the BLOC-2 complex, leading to the symptoms associated with HPS. Research focusing on HPS3 can provide valuable insights into the underlying mechanisms of this syndrome and potentially lead to the development of targeted therapies.Overall, the HPS3 Polyclonal Antibody (PACO09790) is a versatile tool for researchers interested in HPS and related disorders, offering reliable performance and accurate detection of the HPS3 protein. Its applicability in Western blotting makes it an essential component of studies aiming to unravel the complexities of Hermansky-Pudlak syndrome.
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: VesicleChromosomal Location of Human Ortholog: 3q24Biological Process: pigmentation; organelle organization and biogenesisDisease: Hermansky-pudlak Syndrome 3
UniProt Protein Details:
NCBI Summary:
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]
