Gene Symbol: arl6
Description: ADP-ribosylation factor-like 6
Alias: zgc:101762, ADP-ribosylation factor-like protein 6, bbs3
Tayeh M, Yen H, Beck J, Searby C, Westfall T, Griesbach H, et al
. Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet. 2008;17:1956-67 pubmed publisher
..Here, we demonstrate that individual knockdown of bbs1 and bbs3 results in the same prototypical phenotypes as reported previously for other BBS genes...
Pretorius P, Baye L, Nishimura D, Searby C, Bugge K, Yang B, et al
. Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. PLoS Genet. 2010;6:e1000884 pubmed publisher
..We have identified a novel transcript of a known BBS gene, BBS3 (ARL6), which includes an additional exon...
Zaghloul N, Liu Y, Gerdes J, Gascue C, Oh E, Leitch C, et al
. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proc Natl Acad Sci U S A. 2010;107:10602-7 pubmed publisher
..Importantly, superimposition of these results to human genetics data suggests a previously underappreciated complexity in disease architecture that might be shared among diverse clinical phenotypes. ..
Pretorius P, Aldahmesh M, Alkuraya F, Sheffield V, Slusarski D. Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Hum Mol Genet. 2011;20:1625-32 pubmed publisher
..mapping with a consanguineous family with isolated retinitis pigmentosa identified a missense mutation in BBS3, a known BBS gene. The mutation in BBS3 encodes a single amino acid change at position 89 from alanine to valine...
Leitch C, Lodh S, Prieto EchagÃ¼e V, Badano J, Zaghloul N. Basal body proteins regulate Notch signaling through endosomal trafficking. J Cell Sci. 2014;127:2407-19 pubmed publisher
..We observe similar defects with disruption of BBS3. Loss of another basal body protein, ALMS1, also enhances Notch activation and the accumulation of receptor in late ..