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CCDC22
Coiled-coil domain containing 22 is a protein that in humans is encoded by the CCDC22 gene.〔 (【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/gene/28952 )〕 ==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. (by RefSeq, Aug 2013 ). ##Evidence-Data-START## Transcript exon combination :: BC000972.2, AK291976.1 () RNAseq introns :: single sample supports all introns ERS025081, ERS025082 () ##Evidence-Data-END##
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「CCDC22」の詳細全文を読む
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