Gene Symbol | CCDC22 |
Entrez Gene ID | 28952 |
Full Name | coiled-coil domain containing 22 |
Synonyms | CXorf37,JM1,RTSC2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]. |
Disorder MIM: | |
Disorder Html: | Ritscher-Schinzel syndrome 2, 300963 (3) |