View source for TMEM67

{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
'''Meckelin''' is a [[protein]] that in humans is encoded by the ''TMEM67'' [[gene]].<ref name="pmid12384791">{{cite journal | vauthors = Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller RF, Trembath RC, Maher ER, Johnson CA | title = A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24 | journal = Hum Genet | volume = 111 | issue = 4–5 | pages = 456–61 |date=Oct 2002 | pmid = 12384791 | doi = 10.1007/s00439-002-0817-0 | s2cid = 31669120 | url = http://qmro.qmul.ac.uk/xmlui/handle/123456789/7466 }}</ref><ref name="pmid16415887">{{cite journal | vauthors = Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik SS, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, ((Gattone VH II)), Harris PC, Johnson CA | title = The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat | journal = Nat Genet | volume = 38 | issue = 2 | pages = 191–6 |date=Jan 2006 | pmid = 16415887 | doi = 10.1038/ng1713 | s2cid = 975892 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TMEM67 transmembrane protein 67| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=91147}}</ref>
== Function ==
The protein encoded by this gene localizes to the primary [[cilium]] and to the plasma membrane. The gene functions in [[centriole]] migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different [[isoforms]] have been found for this gene.<ref name="entrez"/>
== Clinical significance ==
Defects in this gene are a cause of [[Meckel syndrome]] type 3 (MKS3),<ref name="pmid16415887"/> [[nephronophthisis]]<ref name="pmid4688793">{{cite journal | vauthors = Boichis H, Passwell J, David R, Miller H | title = Congenital hepatic fibrosis and nephronophthisis. A family study | journal = Q. J. Med. | volume = 42 | issue = 165 | pages = 221–33 |date=January 1973 | pmid = 4688793 }}</ref><ref name="pmid19508969">{{cite journal | vauthors = Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F | title = Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) | journal = J. Med. Genet. | volume = 46 | issue = 10 | pages = 663–70 |date=October 2009 | pmid = 19508969 | doi = 10.1136/jmg.2009.066613 | doi-access = free }}</ref> and [[Joubert syndrome]] type 6 (JBTS6).<ref name="pmid17160906">{{cite journal | vauthors = Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T | title = The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome | journal = Am. J. Hum. Genet. | volume = 80 | issue = 1 | pages = 186–94 |date=January 2007 | pmid = 17160906 | pmc = 1785313 | doi = 10.1086/510499 }}</ref>
==See also==
* [[Meckel syndrome]]
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
*{{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=Consugar MB, Kubly VJ, Lager DJ, etal |title=Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. |journal=Hum. Genet. |volume=121 |issue= 5 |pages= 591–9 |year= 2007 |pmid= 17377820 |doi= 10.1007/s00439-007-0341-3 |s2cid=11815792 }}
*{{cite journal   |vauthors=Dawe HR, Smith UM, Cullinane AR, etal |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 |year= 2007 |pmid= 17185389 |doi= 10.1093/hmg/ddl459 |doi-access= free }}
*{{cite journal   |vauthors=Baala L, Romano S, Khaddour R, etal |title=The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. |journal=Am. J. Hum. Genet. |volume=80 |issue= 1 |pages= 186–94 |year= 2007 |pmid= 17160906 |doi= 10.1086/510499  | pmc=1785313 }}
*{{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=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= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
{{refend}}
{{Ciliary proteins}}
{{gene-8-stub}}