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.

Mar 28, 2025 · BBS5 (Bardet-Biedl Syndrome 5) is a Protein Coding gene. Diseases associated with BBS5 include Bardet-Biedl Syndrome 5 and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance …

Eaton Bussmann series BBS fuse, 5 A, Non-indicating, Ferrule end x ferrule end, 10 kAIC at 600 Vac, Nickel-plated brass endcaps, Standard, 600 V. Products in your cart cannot be sold together in one transaction. Please choose to either keep your existing cart, or create a …

Feb 8, 2025 · Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. identified BBS5, a novel gene for Bardet-Biedl syndrome; it localizes to basal bodies, is under the regulatory control of daf-19, and is necessary for the generation of both cilia and flagella

Jan 7, 2024 · Clinical resource with information about BBS5, Bardet-Biedl syndrome 5, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Fast-acting, nonindicating midget fuses open within seconds of being exposed to overloads and short circuits. Also called fast-blow midget fuses, they are highly sensitive to changes in …

May 13, 2023 · The BBS5 protein's impact was confirmed on the patient's cells (presence/absence and size of the cilium) and ciliary function (Sonic Hedgehog pathway). This study highlights the importance of WGS and the challenge of reliable structural variant detection in patients' genetic explorations as well as functional tests to assess a variant's ...

Apr 18, 2016 · BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015).

BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015).