background:
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. [provided by RefSeq, Aug 2011].
Subunit:
Interacts with CPNE1 and CPNE4 (By similarity).
Tissue Specificity:
Widely expressed in adult tissues and in fetal liver and brain, with highest levels in prostate and lowest in skeletal muscle.
DISEASE:
Note=May be involved in X-linked syndromic mental retardation (PubMed:21826058). CCDC22 expression has been found to be down-regulated in a family with a phenotype consistent with X-linked syndromic mental retardation, and carrying variant Ala-17. In addition to intellectual disability, affected individuals have cardiac and skeletal abnormalities.
Similarity:
Belongs to the CCDC22 family.
Database links:
UniProtKB/Swiss-Prot: O60826.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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