TMEM216
Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.[5]
Clinical significance
Mutations in this gene may be associated with Meckel syndrome or Joubert syndrome.[6]
See also
References
Further reading
- Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome.". Cell. 122 (6): 957–68. PMID 16169070. doi:10.1016/j.cell.2005.08.029.
- Valente EM, Salpietro DC, Brancati F, et al. (2003). "Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.". Am. J. Hum. Genet. 73 (3): 663–70. PMC 1180692
. PMID 12908130. doi:10.1086/378241.
- Edvardson S, Shaag A, Zenvirt S, et al. (2010). "Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.". Am. J. Hum. Genet. 86 (1): 93–7. PMC 2801745 . PMID 20036350. doi:10.1016/j.ajhg.2009.12.007.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Roume J, Genin E, Cormier-Daire V, et al. (1998). "A gene for Meckel syndrome maps to chromosome 11q13.". Am. J. Hum. Genet. 63 (4): 1095–101. PMC 1377494 . PMID 9758620. doi:10.1086/302062.
- Keeler LC, Marsh SE, Leeflang EP, et al. (2003). "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. PMC 1180691 . PMID 12917796. doi:10.1086/378206.
- Valente EM, Logan CV, Mougou-Zerelli S, et al. (2010). "Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.". Nat. Genet. 42 (7): 619–25. PMC 2894012 . PMID 20512146. doi:10.1038/ng.594.
- Hillier LD, Lennon G, Becker M, et al. (1996). "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807–28. PMID 8889549. doi:10.1101/gr.6.9.807.
- Zhang QH, Ye M, Wu XY, et al. (2000). "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. PMC 310934 . PMID 11042152. doi:10.1101/gr.140200.
