CC2D2A
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by tbe CC2D2A gene.[1][2][3]
Function
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.[1]
Clinical significance
Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome.[1]
References
Further reading
- Mougou-Zerelli S, Thomas S, Szenker E, et al. (2009). "CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.". Hum. Mutat. 30 (11): 1574–82. doi:10.1002/humu.21116. PMC 2783384. PMID 19777577. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2783384.
- 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.
- Noor A, Windpassinger C, Patel M, et al. (2008). "Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa". Am. J. Hum. Genet. 83 (5): 656. PMC 2674770. PMID 19068953. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2674770.
- Dick DM, Aliev F, Krueger RF, et al. (2010). "Genome-wide association study of conduct disorder symptomatology". Molecular psychiatry 16 (8): HASH(0x24d8b30). doi:10.1038/mp.2010.73. PMID 20585324.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129.
- Noor A, Windpassinger C, Patel M, et al. (2008). "CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa". Am. J. Hum. Genet. 82 (4): 1011–8. doi:10.1016/j.ajhg.2008.01.021. PMC 2427291. PMID 18387594. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2427291.
- Doherty D, Parisi MA, Finn LS, et al. (2010). "Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)". J. Med. Genet. 47 (1): 8–21. doi:10.1136/jmg.2009.067249. PMID 19574260.
- Gorden NT, Arts HH, Parisi MA, et al. (2008). "CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290". Am. J. Hum. Genet. 83 (5): 559–71. doi:10.1016/j.ajhg.2008.10.002. PMC 2668034. PMID 18950740. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2668034.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.