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CCDC22 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.
Gene Name: | coiled-coil domain containing 22 |
Synonyms: | CCDC22, CXorf37, JM1 |
Target Sequences: | NM_014008 NP_054727.1 O60826 |
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