巴尔得-别德尔综合征相关蛋白9抗体

巴尔得-别德尔综合征相关蛋白9抗体 Background: BBS9 is an 887 amino acid protein that localizes to both the cytoplasm and the centrosome and exists as six alternatively spliced isoforms. Expressed in a wide variety of tissues, including liver, lung, heart, brain and skeletal muscle, BBS9 functions as a component of the multi-protein BBSome complex which is required for ciliogenesis and is regulated by GDP/GTP exchange factors. Defects in the gene encoding BBS9 are associated with the pathogenesis of Bardet-Biedl syndrome type 9 (BBS9), an autosomal recessive disorder that is characterized by severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Additionally, chromosomal aberrations involving the BBS9 gene may play a role in the formation of Wilms tumor 5 (WT5). Also known as: B1 antibody; Bardet Biedl syndrome 9; Bardet-Biedl syndrome 9 protein; bbs9; C18 antibody D1 antibody MGC118917; 1 gene protein; Protein PTHB1; PTH-responsive osteosarcoma B1 protein; PTHB1; PTHB1_HUMAN.巴尔得-别德尔综合征相关蛋白9抗体