The HPS6 Polyclonal Antibody (PACO09792) is a reliable tool for researchers studying HPS6, a protein involved in the biogenesis of lysosome-related organelles. This antibody, produced in rabbits, exhibits high specificity and sensitivity towards human samples, making it suitable for Western blot applications. By targeting the HPS6 protein, this antibody enables accurate detection and analysis in a variety of cell types, facilitating investigations in cell biology and lysosome function.HPS6, also known as Hermansky-Pudlak syndrome 6 protein, is essential for the proper formation of lysosome-related organelles, which play crucial roles in cellular processes such as endocytosis and autophagy.
Dysregulation of HPS6 has been linked to lysosomal storage disorders and other diseases affecting lysosome function. Research on HPS6 can provide valuable insights into these conditions and contribute to the development of targeted therapies aimed at restoring lysosomal homeostasis.Overall, the HPS6 Polyclonal Antibody (PACO09792) is a valuable tool for investigating the function and regulation of HPS6 in cellular processes and disease pathology. Its specific reactivity and reliability make it a trusted resource for researchers working in the fields of cell biology, lysosome biology, and genetic disorders.
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 functionChromosomal Location of Human Ortholog: 10q24.32Cellular Component: membrane; endoplasmic reticulum; early endosome membraneMolecular Function: GTP-dependent protein binding; Rab GTPase bindingBiological Process: organelle organization and biogenesis; melanocyte differentiation; blood coagulationDisease: Hermansky-pudlak Syndrome 6
UniProt Protein Details:
NCBI Summary:
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]
