蛋白质/抗原/多肽 >> 重组蛋白
重组巴尔得-别德尔综合征相关蛋白9
产品介绍 基因名: BBS9 产品别名: B1; C18; D1; PTHB1; BBS9; Bardet-Biedl syndrome 9; Bardet-Biedl syndrome 9; protein PTHB1; PTH-responsive osteosarcoma B1 protein; bardet-Biedl syndrome 9 protein; parathyroid hormone-responsive B1 gene protein; 巴尔得-别德尔综合征相关蛋白9; 背景信息: 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). 标签:His-tag |
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