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MKKS

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{{Short description|Protein-coding gene in the species Homo sapiens}}

{{about|the protein and gene|the singular|MKK (disambiguation)}}

{{Infobox_gene}}

McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.{{cite journal |vauthors=Stone DL, Agarwala R, Schaffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG | title = Genetic and physical mapping of the McKusick-Kaufman syndrome | journal = Hum Mol Genet | volume = 7 | issue = 3 | pages = 475–81 |date=Apr 1998 | pmid = 9467007 | doi =10.1093/hmg/7.3.475 | doi-access = free | citeseerx = 10.1.1.332.5058 }}{{cite web | title = Entrez Gene: MKKS McKusick-Kaufman syndrome| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8195}}

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.

References

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External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome]
  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mkks GeneReviews/NIH/NCBI/UW entry on McKusick–Kaufman syndrome]

Further reading

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  • {{cite journal |vauthors=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 |s2cid=2868670 }}
  • {{cite journal |vauthors=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 |s2cid=62795101 }}
  • {{cite journal |vauthors=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 |s2cid=20313506 }}
  • {{cite journal |vauthors=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=10.1101/gr.143000 | pmc=310948 }}
  • {{cite journal |vauthors=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=10.1086/318794 | pmc=1274474 }}
  • {{cite journal |vauthors=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.GR1547R | pmc=311072 }}
  • {{cite journal |vauthors=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 | pmc=1083732 }}
  • {{cite journal |vauthors=Katsanis N, Ansley SJ, Badano JL, etal |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 |bibcode=2001Sci...293.2256K |s2cid=41822166 }}
  • {{cite journal |vauthors=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 |bibcode=2001Natur.414..865D |doi-access= free }}
  • {{cite journal |vauthors=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 |s2cid=23568108 |url= https://zenodo.org/record/1232759 }}
  • {{cite journal |vauthors=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 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal |vauthors=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=10.1093/hmg/ddg188 |doi-access=free }}
  • {{cite journal |vauthors=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 | pmc=528930 }}
  • {{cite journal |vauthors=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 |doi-access= |s2cid=26831634 }}
  • {{cite journal |vauthors=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 | pmc=1347501 }}
  • {{cite journal |vauthors=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= 1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 }}

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