2024年12月24日 · BBS9 (Bardet-Biedl Syndrome 9) is a Protein Coding gene. Diseases associated with BBS9 include Bardet-Biedl Syndrome 9 and Bardet-Biedl Syndrome . Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane .

Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene. [4] [5] The expression of the Bardet–Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in …

2025年1月4日 · Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene. This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined.

This gene has 29 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 3.4), thyroid (RPKM 2.2) and 25 other tissues. 该基因在成骨细胞中被甲状旁腺激素下调，因此被认为与骨骼中甲状旁腺激素的作用有关。 该基因的确切功能尚未确定。 已经鉴定出编码不同亚型的选择性剪接转录物变体。 [RefSeq 提供，2017 年 …

2024年12月10日 · Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. Khan MA, Mohan S, Zubair M, Windpassinger CKhan MA, et al .

BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).

Background: BBS9 is a component of the octameric BBSome, a complex that transports membrane proteins to the primary cilium. Results: BBS9 has four folded domains, based on structure prediction; the N-terminal domain is a β-propeller. Conclusion: BBS9 likely acts as a scaffold component in the BBSome coat.

2018年6月26日 · BBS9 encodes one of seven Bardet-Biedl Syndrome (BBS) proteins that form the stable core of a protein complex required for ciliogenesis and that have a likely function in membrane trafficking to the primary cilium [1].

临床外显子组测序用于在受影响的个体中寻找引起 BBS 的变异，并在 BBS9 基因 (c.702 + 1del) 中鉴定出一种新的纯合剪接位点变异。 进行桑格测序以进行变异验证和分离研究。

2018年1月22日 · Clinical chromosomal microarray (CMA) testing and high-throughput BBS gene panel sequencing detected a homozygous 7p14.3 deletion of exons 1–4 of BBS9 that was encompassed by a 17.5 Mb region of...