重组巴尔得-别德尔综合征相关蛋白8
交货期:1周
产品别名:Recombinant Ttc8
Recombinant tetratricopeptide repeat domain 8 protein
基因名:
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:
Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. BBS patients also have an increased risk of developing diabetes, hypertension, and congenital heart defects. BBS is a heterogeneous disorder mapping to eight genetic loci and encoding eight proteins, BBS1-BBS8. Five BBS proteins encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS2 contains two overlapping genes: BBS2L1 and BBS2L2. BBSL1 was re-named BBS7, whereas BBS2L2 independently funcitons as BBS1. BBS7 contains 672 amino acids and is expressed at low to moderate levels in most human tissues.
产品发布日期:2026.05.06