TMEM216 explained
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
Further reading
- Stelzl U, Worm U, Lalowski M, etal . A human protein-protein interaction network: a resource for annotating the proteome. . Cell . 122 . 6 . 957–68 . 2005 . 16169070 . 10.1016/j.cell.2005.08.029 . 11858/00-001M-0000-0010-8592-0 . 8235923 . free .
- Valente EM, Salpietro DC, Brancati F, etal . Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. . Am. J. Hum. Genet. . 73 . 3 . 663–70 . 2003 . 12908130 . 10.1086/378241 . 1180692.
- Edvardson S, Shaag A, Zenvirt S, etal . Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. . Am. J. Hum. Genet. . 86 . 1 . 93–7 . 2010 . 20036350 . 10.1016/j.ajhg.2009.12.007 . 2801745.
- Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 12477932 . 10.1073/pnas.242603899 . 139241. 2002PNAS...9916899M . free .
- Roume J, Genin E, Cormier-Daire V, etal . A gene for Meckel syndrome maps to chromosome 11q13. . Am. J. Hum. Genet. . 63 . 4 . 1095–101 . 1998 . 9758620 . 10.1086/302062 . 1377494.
- Keeler LC, Marsh SE, Leeflang EP, etal . 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 . 12917796 . 10.1086/378206 . 1180691.
- Valente EM, Logan CV, Mougou-Zerelli S, etal . Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. . Nat. Genet. . 42 . 7 . 619–25 . 2010 . 20512146 . 10.1038/ng.594 . 2894012.
- Hillier LD, Lennon G, Becker M, etal . Generation and analysis of 280,000 human expressed sequence tags. . Genome Res. . 6 . 9 . 807–28 . 1996 . 8889549 . 10.1101/gr.6.9.807. free .
- Zhang QH, Ye M, Wu XY, etal . 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 . 11042152 . 10.1101/gr.140200 . 310934.
Notes and References
- Web site: Entrez Gene: transmembrane protein 216.
- Wang A . TMEM216 joins its ciliary cousins in ciliopathies . Clin Genet . 79. 1. 45–7. September 2010 . 21029074 . 10.1111/j.1399-0004.2010.01556_2.x . 948228 .