TMEM216
Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.[1]
Clinical significance
Clinical significance
Mutations in this gene may be associated with Meckel syndrome or Joubert syndrome.[2]
References
References
- ↑ “Entrez Gene: transmembrane protein 216”.
- ↑ 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
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. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
- 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. doi:10.1086/378241. PMC 1180692. PMID 12908130.
- 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. doi:10.1016/j.ajhg.2009.12.007. PMC 2801745. PMID 20036350.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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. doi:10.1086/302062. PMC 1377494. PMID 9758620.
- 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. doi:10.1086/378206. PMC 1180691. PMID 12917796.
- 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. doi:10.1038/ng.594. PMC 2894012. PMID 20512146.
- 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. doi:10.1101/gr.6.9.807. PMID 8889549.
- 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. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
Looking for the patient version?
© 2026 MyEClinic – IFTM Institut für Telematik in der Medizin GmbH