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巴尔得-别德尔综合征相关蛋白8抗体
产品介绍 靶标: Ttc8 产品别名: 0610012F22Rik; AV001447; BBS8; Ttc8; tetratricopeptide repeat domain 8; tetratricopeptide repeat domain 8; tetratricopeptide repeat protein 8; TPR repeat protein 8; bardet-Biedl syndrome 8 protein homolog; 巴尔得-别德尔综合征相关蛋白8; 背景信息: Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. 宿主:Rbt |
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