TMEM67

Transmembrane protein 67
Identifiers
Symbols	TMEM67 ; JBTS6; MECKELIN; MKS3; NPHP11; TNEM67
External IDs	OMIM: 609884 MGI: 1923928 HomoloGene: 71886 GeneCards: TMEM67 Gene
Gene ontology Molecular function • protein binding • filamin binding • unfolded protein binding Cellular component • endoplasmic reticulum membrane • centrosome • integral component of membrane • cytoplasmic vesicle membrane • TCTN-B9D complex • ciliary membrane Biological process • organelle organization • negative regulation of centrosome duplication • ER-associated ubiquitin-dependent protein catabolic process • cilium assembly • cilium morphogenesis Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	91147	329795
Ensembl	ENSG00000164953	ENSMUSG00000049488
UniProt	Q5HYA8	Q8BR76
RefSeq (mRNA)	NM_001142301	NM_177861
RefSeq (protein)	NP_001135773	NP_808529
Location (UCSC)	Chr 8: 93.75 – 93.82 Mb	Chr 4: 12.04 – 12.09 Mb
PubMed search

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

• Meckel syndrome

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. 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 2nd, 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. "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

• Khaddour R, Smith U, Baala L, et al. (2007). "Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.". Hum. Mutat. 28 (5): 523–4. doi:10.1002/humu.9489. PMID 17397051.
• Consugar MB, Kubly VJ, Lager DJ, et al. (2007). "Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.". Hum. Genet. 121 (5): 591–9. doi:10.1007/s00439-007-0341-3. PMID 17377820.
• Dawe HR, Smith UM, Cullinane AR, et al. (2007). "The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.". Hum. Mol. Genet. 16 (2): 173–86. doi:10.1093/hmg/ddl459. PMID 17185389.
• Baala L, Romano S, Khaddour R, et al. (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.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.