TMEM67
MIM.609884
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
- Meckel-Gruber syndrome (locus MKS3 on 8q)
- Joubert syndrome (#17160906#)
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#