巴尔得-别德尔综合征相关蛋白4抗体

巴尔得-别德尔综合征相关蛋白4抗体 Background: Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. BBS is a heterogeneous disorder; BBS genes map to eight genetic loci and encode eight proteins, BBS1-BBS8. Five BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS4 is expressed in the olfactory epithelium and localizes to the centriolar satellites of centrosomes and basal bodies of primary cilia. BBS4 regulates the p150 subunit of the dynein transport machinery (DCTN1) to attract pericentriolar material-1 protein (PCM1) and its associated components to the satellites. Loss of BBS4 is correlated with obesity caused by abnormal lipid profiles, liver dysfunction, elevated insulin, and abnormal leptin levels. Also known as: Bardet Biedl syndrome 4 protein; Bardet-Biedl syndrome 4 protein; Bbs4; BBS4_HUMAN.巴尔得-别德尔综合征相关蛋白4抗体