Biology:CCDC22
 Generic protein structure example |
Coiled-coil domain containing 22 is a protein that in humans is encoded by the CCDC22 gene.[1]
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.[2]
References
- ↑ "Entrez Gene: Coiled-coil domain containing 22". https://www.ncbi.nlm.nih.gov/gene/28952.
- ↑ "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. May 2015. doi:10.1038/ejhg.2014.109. PMID 24916641.
External links
- Human CCDC22 genome location and CCDC22 gene details page in the UCSC Genome Browser.
Further reading
- "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. February 2012. doi:10.1042/BJ20111761. PMID 22070227.
- "CCDC22: a novel candidate gene for syndromic X-linked intellectual disability". Molecular Psychiatry 17 (1): 4–7. January 2012. doi:10.1038/mp.2011.95. PMID 21826058.
- "Systematically generated antibodies against human gene products: high throughput screening on sections from the rat nervous system". Neuroscience 146 (4): 1689–703. June 2007. doi:10.1016/j.neuroscience.2007.02.054. PMID 17478047.
- "Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease". Molecular Psychiatry 14 (11): 1004–16. November 2009. doi:10.1038/mp.2009.10. PMID 19204726.
- "CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling". The Journal of Clinical Investigation 123 (5): 2244–56. May 2013. doi:10.1172/JCI66466. PMID 23563313.
- "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. June 2010. doi:10.1016/j.jaci.2010.02.017. PMID 20398921.
- "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. March 2003. 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.
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