Genomes and Genes
Gene Symbol: mkks
Description: McKusick-Kaufman syndrome
Alias: bbs6, zgc:55608, McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin, Bardet-Biedl syndrome 6
- Gerdes J, Liu Y, Zaghloul N, Leitch C, Lawson S, Kato M, et al. Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet. 2007;39:1350-60 pubmed..Here we show that bbs1, bbs4 and mkks (also known as bbs6), which encode basal body proteins, are required for convergence and extension in zebrafish and interact with wnt11 ..
- 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..This study reveals an in vivo requirement for BBS function in limb bud patterning. Our results provide important new insights into the mechanism and biological significance of BBS. ..
- Scott C, Marsden A, Rebagliati M, Zhang Q, Chamling X, Searby C, et al. Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. PLoS Genet. 2017;13:e1006936 pubmed publisherMutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital ..
- Kim J, Ou Y, Badano J, Esmail M, Leitch C, Fiedrich E, et al. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci. 2005;118:1007-20 pubmed..Here we show that MKKS/BBS6, one of several proteins associated with Bardet-Biedl syndrome (BBS), is a Group II chaperonin-like protein ..