基因名称(Gene Name)
HPS5 AIBP63 KIAA1017
蛋白名称
Hermansky-Pudlak syndrome 5 protein (Alpha-integrin-binding protein 63) (Ruby-eye protein 2 homolog) (Ru2)
免疫原
Synthesized peptide derived from part region of human protein
特异性
HPS5 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
This 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 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008],
功能
disease:Defects in HPS5 are the cause of Hermansky-Pudlak syndrome type 5 (HPS5) [MIM:203300]. 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.,function:May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Might be involved in the regulation of general functions of integrins.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the HPS5 family.,subunit
