HPS5 Polyclonal Antibody

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:Directly interacts with HSP6 in a complex known as biogenesis of lysosome-related organelles complex-2 (or BLOC2). Might interact with all alpha-integrin chains that have an aromatic residue before the first lysine of the conserved KXGFFKR motif, including ITGA2, ITGA3, ITGA5 and ITGA6.,tissue specificity:Widely expressed, with highest expression in liver, spinal chord, testis and thalamus.,