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analysis of a novel splice variant of BBS5 that appears to be expressed only in the retina
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
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
Findings suggest a role for Bardet-Biedl syndrome 5 (BBS5) in regulating light-dependent translocation of arrestin1 (Arr1).
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 required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.
Bardet-Biedl syndrome 5 protein homolog
, Bardet-Biedl syndrome 5 protein
, Bardet-Biedl syndrome 5 homolog
, novel DUF1448 protein