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CCDC22 encodes a protein containing a coiled-coil domain. Additionally we are shipping Coiled-Coil Domain Containing 22 Antibodies (45) and Coiled-Coil Domain Containing 22 Kits (20) and many more products for this protein.
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CCDC22 mutation is associated with hypercholesterolemia.
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
CCDC22 participates in NF-kappaB (show NFKB1 Proteins) activation and its deficiency leads to decreased IkappaB turnover
This study demonistrated that CCDC22 is a novel candidate gene for syndromic X-linked intellectual disability.
This gene encodes a protein containing a coiled-coil domain. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. Localization of the orthologous rat protein suggests that it may play a role in neuronal injury response. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability.
coiled-coil domain-containing protein 22