TMEM67

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TMEM67
Identifiers
Aliases TMEM67, JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, transmembrane protein 67
External IDs MGI: 1923928 HomoloGene: 71886 GeneCards: TMEM67
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001142301
NM_153704

NM_177861

RefSeq (protein)

NP_001135773
NP_714915

NP_808529.2
NP_808529

Location (UCSC) Chr 8: 93.75 – 93.82 Mb Chr 4: 12.04 – 12.09 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Meckelin is a protein that in humans is encoded by the TMEM67 gene.[3][4][5]

Function[edit]

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.[5]

Clinical significance[edit]

Defects in this gene are a cause of Meckel syndrome type 3 (MKS3),[4] nephronophthisis[6][7] and Joubert syndrome type 6 (JBTS6).[8]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b 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. 
  5. ^ a b "Entrez Gene: TMEM67 transmembrane protein 67". 
  6. ^ 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. 
  7. ^ 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. 
  8. ^ 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 1785313Freely accessible. PMID 17160906. 

Further reading[edit]