MKKS/BBS6 is a divergent chaperonin-like protein and is a novel centrosomal component required for cytokinesis.
Pathology
germline mutations in
- McKusick-Kaufman syndrome (MKKS) (MIM.236700)
- Bardet-Biedl syndrome locus 6 (BBS6) (MIM.209900)
Animal models
Mkks-null mice (15772095)
References
Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC. Mkks-null mice have a phenotype resembling Bardet-Biedl Syndrome. Hum Mol Genet. 2005 Mar 16; PMID: 15772095
Kim JC, Ou YY, Badano JL, Esmail MA, Leitch CC, Fiedrich E, Beales PL, Archibald JM, Katsanis N, Rattner JB, Leroux MR. 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 Mar 1;118(Pt 5):1007-20. PMID: 15731008
Pan J, Wang Q, Snell WJ. Cilium-generated signaling and cilia-related disorders. Lab Invest. 2005 Apr;85(4):452-63. PMID: 15723088
Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000 Sep;26(1):67-70. PMID: 10973251