MKKS explained

McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.^{[1] [2]}

This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 6 and McKusick–Kaufman syndrome. Two transcript variants encoding the same protein have been identified for this gene.^[2]

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome
• GeneReviews/NIH/NCBI/UW entry on McKusick–Kaufman syndrome

Further reading

• Stone DL, Slavotinek A, Bouffard GG, et al . Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. . Nat. Genet. . 25 . 1 . 79–82 . 2000 . 10802661 . 10.1038/75637 . 2868670 .
• Slavotinek AM, Stone EM, Mykytyn K, et al . Mutations in MKKS cause Bardet-Biedl syndrome. . Nat. Genet. . 26 . 1 . 15–6 . 2000 . 10973238 . 10.1038/79116 . 62795101 .
• Katsanis N, Beales PL, Woods MO, et al . Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet–Biedl syndrome. . Nat. Genet. . 26 . 1 . 67–70 . 2000 . 10973251 . 10.1038/79201 . 20313506 .
• Hartley JL, Temple GF, Brasch MA . DNA cloning using in vitro site-specific recombination. . Genome Res. . 10 . 11 . 1788–95 . 2001 . 11076863 . 10.1101/gr.143000 . 310948 .
• Beales PL, Katsanis N, Lewis RA, et al . Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. . Am. J. Hum. Genet. . 68 . 3 . 606–16 . 2001 . 11179009 . 10.1086/318794 . 1274474 .
• Wiemann S, Weil B, Wellenreuther R, et al . Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. . Genome Res. . 11 . 3 . 422–35 . 2001 . 11230166 . 10.1101/gr.GR1547R . 311072 .
• Simpson JC, Wellenreuther R, Poustka A, et al . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. . EMBO Rep. . 1 . 3 . 287–92 . 2001 . 11256614 . 10.1093/embo-reports/kvd058 . 1083732 .
• Katsanis N, Ansley SJ, Badano JL, etal . Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. . Science . 293 . 5538 . 2256–9 . 2001 . 11567139 . 10.1126/science.1063525 . 2001Sci...293.2256K . 41822166 .
• Deloukas P, Matthews LH, Ashurst J, et al . The DNA sequence and comparative analysis of human chromosome 20. . Nature . 414 . 6866 . 865–71 . 2002 . 11780052 . 10.1038/414865a . 2001Natur.414..865D . free .
• Slavotinek AM, Searby C, Al-Gazali L, et al . Mutation analysis of the MKKS gene in McKusick–Kaufman syndrome and selected Bardet-Biedl syndrome patients. . Hum. Genet. . 110 . 6 . 561–7 . 2002 . 12107442 . 10.1007/s00439-002-0733-3 . 23568108 .
• Strausberg RL, Feingold EA, Grouse LH, et al . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Badano JL, Kim JC, Hoskins BE, et al . Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. . Hum. Mol. Genet. . 12 . 14 . 1651–9 . 2003 . 12837689 . 10.1093/hmg/ddg188 . free .
• Wiemann S, Arlt D, Huber W, et al . From ORFeome to biology: a functional genomics pipeline. . Genome Res. . 14 . 10B . 2136–44 . 2004 . 15489336 . 10.1101/gr.2576704 . 528930 .
• Kim JC, Ou YY, Badano JL, 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. . 118 . Pt 5 . 1007–20 . 2005 . 15731008 . 10.1242/jcs.01676 . 26831634 .
• Mehrle A, Rosenfelder H, Schupp I, et al . The LIFEdb database in 2006. . Nucleic Acids Res. . 34 . Database issue . D415–8 . 2006 . 16381901 . 10.1093/nar/gkj139 . 1347501 .
• Ewing RM, Chu P, Elisma F, et al . Large-scale mapping of human protein-protein interactions by mass spectrometry. . Mol. Syst. Biol. . 3 . 1. 89 . 2007 . 17353931 . 10.1038/msb4100134 . 1847948 .

Notes and References

1. Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG . Genetic and physical mapping of the McKusick-Kaufman syndrome . Hum Mol Genet . 7 . 3 . 475–81 . Apr 1998 . 9467007 . 10.1093/hmg/7.3.475 . free . 10.1.1.332.5058 .
2. Web site: Entrez Gene: MKKS McKusick-Kaufman syndrome.