CCDC22

Coiled-coil domain containing 22 is a is_associated_with::protein that in humans is encoded by the CCDC22 is_associated_with::gene.

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. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability. [provided by RefSeq, Aug 2013]. ##Evidence-Data-START## Transcript exon combination :: BC000972.2, AK291976.1 [ECO:0000332] RNAseq introns             :: single sample supports all introns                                ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END##

Clinical significance
Mutations in CCDC22 are associated to Ritscher-Schinzel syndrome.