Coiled-coil domain containing 22 is a protein that in humans is encoded by the CCDC22 gene.[5]
Function
This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. In humans, this gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability.
Clinical significance
Mutations in CCDC22 are associated with Ritscher-Schinzel syndrome.[6]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000101997 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031143 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: Coiled-coil domain containing 22".
- ↑ Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D (May 2015). "Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome". European Journal of Human Genetics. 23 (5): 633–8. doi:10.1038/ejhg.2014.109. PMC 4402643. PMID 24916641.
External links
- Human CCDC22 genome location and CCDC22 gene details page in the UCSC Genome Browser.
Further reading
- Harbour ME, Breusegem SY, Seaman MN (February 2012). "Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35". The Biochemical Journal. 442 (1): 209–20. doi:10.1042/BJ20111761. PMID 22070227.
- Voineagu I, Huang L, Winden K, Lazaro M, Haan E, Nelson J, McGaughran J, Nguyen LS, Friend K, Hackett A, Field M, Gecz J, Geschwind D (January 2012). "CCDC22: a novel candidate gene for syndromic X-linked intellectual disability". Molecular Psychiatry. 17 (1): 4–7. doi:10.1038/mp.2011.95. PMC 3586744. PMID 21826058.
- Mulder J, Wernérus H, Shi TJ, Pontén F, Hober S, Uhlén M, Hökfelt T (June 2007). "Systematically generated antibodies against human gene products: high throughput screening on sections from the rat nervous system". Neuroscience. 146 (4): 1689–703. doi:10.1016/j.neuroscience.2007.02.054. PMID 17478047. S2CID 34574699.
- Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC (November 2009). "Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease". Molecular Psychiatry. 14 (11): 1004–16. doi:10.1038/mp.2009.10. PMC 2860783. PMID 19204726.
- Starokadomskyy P, Gluck N, Li H, Chen B, Wallis M, Maine GN, Mao X, Zaidi IW, Hein MY, McDonald FJ, Lenzner S, Zecha A, Ropers HH, Kuss AW, McGaughran J, Gecz J, Burstein E (May 2013). "CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling". The Journal of Clinical Investigation. 123 (5): 2244–56. doi:10.1172/JCI66466. PMC 3635737. PMID 23563313.
- Suttner K, Depner M, Wetzke M, Klopp N, von Mutius E, Illig T, Sparwasser T, Kabesch M (June 2010). "Genetic variants harbored in the forkhead box protein 3 locus increase hay fever risk". The Journal of Allergy and Clinical Immunology. 125 (6): 1395–9. doi:10.1016/j.jaci.2010.02.017. PMID 20398921.
- Tomsig JL, Snyder SL, Creutz CE (March 2003). "Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif". The Journal of Biological Chemistry. 278 (12): 10048–54. doi:10.1074/jbc.M212632200. PMID 12522145.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.