DISEASES

Disease-gene associations mined from literature

Literature associating CCDC22 and syndromic X-linked intellectual disability

CCDC22 [ENSP00000365401]

Coiled-coil domain-containing protein 22; Involved in regulation of NF-kappa-B signaling. Promotes ubiquitination of I-kappa-B-kinase subunit IKBKB and its subsequent proteasomal degradation leading to NF-kappa-B activation; the function may involve association with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex. May down-regulate NF- kappa-B activity via association with COMMD1 and involving a CUL2- dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10. Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes; Belongs to the CCDC22 family.

Synonyms:  CCDC22,  CCDC22p,  hCCDC22,  A0A024QZ03,  CCDC22-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM