TMEM67

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Transmembrane protein 67
Identifiers
Symbol(s) TMEM67; JBTS6; MGC26979; MKS3; TNEM67
External IDs OMIM: 609884 MGI: 1923928 HomoloGene: 71886
Orthologs
Human Mouse
Entrez 91147 329795
Ensembl ENSG00000164953 ENSMUSG00000049488
Uniprot Q5HYA8 Q8BT65
Refseq NM_153704 (mRNA)
NP_714915 (protein)		 NM_177861 (mRNA)
NP_808529 (protein)
Location Chr 8: 94.84 - 94.9 Mb Chr 4: 11.97 - 12.02 Mb
Pubmed search [1] [2]

Transmembrane protein 67, also known as TMEM67, is a human gene.[1]


[edit] References

  1. ^ Entrez Gene: TMEM67 transmembrane protein 67.

[edit] 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. PMID 17160906. 
  • Smith UM, Consugar M, Tee LJ, et al. (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. 
  • 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. 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. PMID 12477932. 
  • Morgan NV, Gissen P, Sharif SM, et al. (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. 
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