MKS1

The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for cilium formation.{{cite journal |vauthors=Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA | title = The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation | journal = Hum. Mol. Genet. | volume = 16 | issue = 2 | pages = 173–86 |date=January 2007 | pmid = 17185389 | doi = 10.1093/hmg/ddl459 | doi-access = free }}

Mutations in the MKS1 are associated with Meckel syndrome{{cite journal |vauthors=Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH, Torres VE, Breuning MH, Harris PC | title = Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3 | journal = Hum. Genet. | volume = 121 | issue = 5 | pages = 591–9 |date=June 2007 | pmid = 17377820 | doi = 10.1007/s00439-007-0341-3 | s2cid = 11815792 }} or Bardet–Biedl syndrome.{{cite journal |vauthors=Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N | title = Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome | journal = Nat. Genet. | volume = 40 | issue = 4 | pages = 443–8 |date=April 2008 | pmid = 18327255 | doi = 10.1038/ng.97 | s2cid = 5282929 }}

{{Reflist}}

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• {{cite journal |vauthors=Stelzl U, Worm U, Lalowski M, etal |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 |hdl= 11858/00-001M-0000-0010-8592-0 |s2cid=8235923 |hdl-access= free }}
• {{cite journal |vauthors=Bialas NJ, Inglis PN, Li C, etal |title=Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. |journal=J. Cell Sci. |volume=122 |issue= Pt 5 |pages= 611–24 |year= 2009 |pmid= 19208769 |doi= 10.1242/jcs.028621 |pmc=2720918 }}
• {{cite journal |vauthors=Tammachote R, Hommerding CJ, Sinders RM, etal |title=Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. |journal=Hum. Mol. Genet. |volume=18 |issue= 17 |pages= 3311–23 |year= 2009 |pmid= 19515853 |doi= 10.1093/hmg/ddp272 |pmc=2733821 }}
• {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928 }}
• {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
• {{cite journal |vauthors=Khaddour R, Smith U, Baala L, etal |title=Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. |journal=Hum. Mutat. |volume=28 |issue= 5 |pages= 523–4 |year= 2007 |pmid= 17397051 |doi= 10.1002/humu.9489 |s2cid=6528744 |doi-access=free }}
• {{cite journal |vauthors=Paavola P, Salonen R, Weissenbach J, Peltonen L |title=The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. |journal=Nat. Genet. |volume=11 |issue= 2 |pages= 213–5 |year= 1995 |pmid= 7550354 |doi= 10.1038/ng1095-213 |s2cid=20167521 }}
• {{cite journal |vauthors=Auber B, Burfeind P, Herold S, etal |title=A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. |journal=Clin. Genet. |volume=72 |issue= 5 |pages= 454–9 |year= 2007 |pmid= 17935508 |doi= 10.1111/j.1399-0004.2007.00880.x |s2cid=22385403 |doi-access=free }}
• {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
• {{cite journal |vauthors=Frank V, Ortiz Brüchle N, Mager S, etal |title=Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. |journal=Hum. Mutat. |volume=28 |issue= 6 |pages= 638–9 |year= 2007 |pmid= 17437276 |doi= 10.1002/humu.9496 |s2cid=27589823 |doi-access=free }}

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

{{Ciliary proteins}}

Category:Genes mutated in mice