Biology:TMEM216
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 Generic protein structure example |
Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.[1]
Clinical significance
Mutations in this gene may be associated with Meckel syndrome or Joubert syndrome.[2]
See also
References
- ↑ "Entrez Gene: transmembrane protein 216". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51259.
- ↑ Wang A (September 2010). "TMEM216 joins its ciliary cousins in ciliopathies". Clin Genet 79 (1): 45–7. doi:10.1111/j.1399-0004.2010.01556_2.x. PMID 21029074.
Further reading
- "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. 2005. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
- "Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.". Am. J. Hum. Genet. 73 (3): 663–70. 2003. doi:10.1086/378241. PMID 12908130.
- "Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.". Am. J. Hum. Genet. 86 (1): 93–7. 2010. doi:10.1016/j.ajhg.2009.12.007. PMID 20036350.
- "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. 2002. doi:10.1073/pnas.242603899. PMID 12477932.
- "A gene for Meckel syndrome maps to chromosome 11q13.". Am. J. Hum. Genet. 63 (4): 1095–101. 1998. doi:10.1086/302062. PMID 9758620.
- "Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.". Am. J. Hum. Genet. 73 (3): 656–62. 2003. doi:10.1086/378206. PMID 12917796.
- "Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.". Nat. Genet. 42 (7): 619–25. 2010. doi:10.1038/ng.594. PMID 20512146.
- "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807–28. 1996. doi:10.1101/gr.6.9.807. PMID 8889549.
- "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.". Genome Res. 10 (10): 1546–60. 2000. doi:10.1101/gr.140200. PMID 11042152.
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