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TMEM67

HGNC:28396 MIM.609884

Monday 27 February 2006

TMEM67 (MKS3) is a previously uncharacterized, evolutionarily conserved gene that is expressed at moderate levels in fetal brain, liver and kidney but has widespread, low levels of expression. It encodes a 995-amino acid seven-transmembrane receptor protein of unknown function called meckelin.

Functions

- The meckel-gruber syndrome protein MKS3 is required for ER-associated degradation of surfactant protein C. (19815549)

Pathology

- germline mutation of TMEM67 (MKS3) in

  • Joubert syndrome
  • COACH syndrome (MIM.216360)
  • Joubert syndrome type 6 (MIM.610688) (17160906)
  • Meckel-Gruber syndrome (locus MKS3 on 8q) (MIM.607361)
  • nephronophthisis type 11 (MIM.613550)
  • Bardet-Biedl syndrome 14, modifier of (MIM.209900)

References

- The meckel-gruber syndrome protein MKS3 is required for ER-associated degradation of surfactant protein C. Wang M, Bridges J, Na CL, Xu Y, Weaver TE. J Biol Chem. 2009 Oct 8. PMID: 19815549

- 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. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 2007 Jan;80(1):186-94. PMID: 17160906

- 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 Sharif S, 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, Harris PC, Johnson CA. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet. 2006 Feb;38(2):191-6. PMID: 16415887