MKKS

McKusick-Kaufman syndrome, also known as MKKS, is a human gene.cite web | title = Entrez Gene: MKKS McKusick-Kaufman syndrome| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8195| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: MKKS McKusick-Kaufman syndrome| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8195| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Stone DL, Agarwala R, Schäffer AA, "et al." |title=Genetic and physical mapping of the McKusick-Kaufman syndrome. |journal=Hum. Mol. Genet. |volume=7 |issue= 3 |pages= 475–81 |year= 1998 |pmid= 9467007 |doi=
*cite journal | author=Stone DL, Slavotinek A, Bouffard GG, "et al." |title=Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. |journal=Nat. Genet. |volume=25 |issue= 1 |pages= 79–82 |year= 2000 |pmid= 10802661 |doi= 10.1038/75637
*cite journal | author=Slavotinek AM, Stone EM, Mykytyn K, "et al." |title=Mutations in MKKS cause Bardet-Biedl syndrome. |journal=Nat. Genet. |volume=26 |issue= 1 |pages= 15–6 |year= 2000 |pmid= 10973238 |doi= 10.1038/79116
*cite journal | author=Katsanis N, Beales PL, Woods MO, "et al." |title=Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. |journal=Nat. Genet. |volume=26 |issue= 1 |pages= 67–70 |year= 2000 |pmid= 10973251 |doi= 10.1038/79201
*cite journal | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=
*cite journal | author=Beales PL, Katsanis N, Lewis RA, "et al." |title=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. |journal=Am. J. Hum. Genet. |volume=68 |issue= 3 |pages= 606–16 |year= 2001 |pmid= 11179009 |doi=
*cite journal | author=Wiemann S, Weil B, Wellenreuther R, "et al." |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.154701
*cite journal | author=Simpson JC, Wellenreuther R, Poustka A, "et al." |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058
*cite journal | author=Katsanis N, Ansley SJ, Badano JL, "et al." |title=Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. |journal=Science |volume=293 |issue= 5538 |pages= 2256–9 |year= 2001 |pmid= 11567139 |doi= 10.1126/science.1063525
*cite journal | author=Deloukas P, Matthews LH, Ashurst J, "et al." |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a
*cite journal | author=Slavotinek AM, Searby C, Al-Gazali L, "et al." |title=Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. |journal=Hum. Genet. |volume=110 |issue= 6 |pages= 561–7 |year= 2002 |pmid= 12107442 |doi= 10.1007/s00439-002-0733-3
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Badano JL, Kim JC, Hoskins BE, "et al." |title=Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1651–9 |year= 2003 |pmid= 12837689 |doi=
*cite journal | author=Wiemann S, Arlt D, Huber W, "et al." |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704
*cite journal | author=Kim JC, Ou YY, Badano JL, "et al." |title=MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. |journal=J. Cell. Sci. |volume=118 |issue= Pt 5 |pages= 1007–20 |year= 2005 |pmid= 15731008 |doi= 10.1242/jcs.01676
*cite journal | author=Mehrle A, Rosenfelder H, Schupp I, "et al." |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139
*cite journal | author=Ewing RM, Chu P, Elisma F, "et al." |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue= |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134

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