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Bbs8, together with the planar cell polarity protein Vangl2 (show VANGL2 Proteins), is required to establish left-right asymmetry in zebrafish
Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6 (show MKKS Proteins), BBS7 (show BBS7 Proteins), BBS8, and BBS10 (show BBS10 Proteins) in causing Bardet-Biedl Syndrome.
A splice-site mutation in a retina-specific exon of TTC8 causes nonsyndromic retinitis pigmentosa.
A homozygous null BBS8 mutation leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry, a known defect of the nodal cilium
small role of BBS7 (show BBS7 Proteins) and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients
Results show that BBS8 exon 2A is highly photoreceptor specific and the splicing enhancers within the flanking introns are sufficient to drive photoreceptor-specific inclusion of exon 2A and unrelated exons.
Ciliary proteins Bbs8 and Ift20 (show IFT20 Proteins) promote planar cell polarity in the cochlea.
Data suggest that loss of BBS8 leads to a dramatic and variable reduction in cilia, which alters the uniformity of responses in populations of olfactory sensory neurons expressing the same receptor, contributing to the observed axon-targeting defects.
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. Alternate transcriptional splice variants have been characterized.
tetratricopeptide repeat domain 8
, tetratricopeptide repeat protein 8
, tetratricopeptide repeat protein 8-like
, Bardet-Biedl syndrome type 8
, TPR repeat protein 8
, bardet-Biedl syndrome 8 protein
, bardet-Biedl syndrome 8 protein homolog