TMEM67

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
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RefSeq (mRNA)

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RefSeq (protein)

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Meckelin is a protein that in humans is encoded by the TMEM67 gene.[1][2][3]

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.[3]

Clinical significance

Defects in this gene are a cause of Meckel syndrome type 3 (MKS3),[2] nephronophthisis[4][5] and Joubert syndrome type 6 (JBTS6).[6]

See also

References

  1. 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 (Oct 2002). "A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24". Hum Genet. 111 (4–5): 456–61. doi:10.1007/s00439-002-0817-0. PMID 12384791.
  2. 2.0 2.1 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 (Jan 2006). "The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat". Nat Genet. 38 (2): 191–6. doi:10.1038/ng1713. PMID 16415887.
  3. 3.0 3.1 "Entrez Gene: TMEM67 transmembrane protein 67".
  4. Boichis H, Passwell J, David R, Miller H (January 1973). "Congenital hepatic fibrosis and nephronophthisis. A family study". Q. J. Med. 42 (165): 221–33. PMID 4688793.
  5. 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 (October 2009). "Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)". J. Med. Genet. 46 (10): 663–70. doi:10.1136/jmg.2009.066613. PMID 19508969.
  6. 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 (January 2007). "The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome". Am. J. Hum. Genet. 80 (1): 186–94. doi:10.1086/510499. PMC 1785313. PMID 17160906.

Further reading



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