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- Table of Contents
Facts about 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 resulting in NF-kappa-B activation; the role may involve affiliation with COMMD8 and a CUL1-dependent E3 ubiquitin ligase complex.May down-regulate NF- kappa-B action via association with COMMD1 and between a CUL2- dependent E3 ubiquitin ligase complex. Regulates the cellular localization of COMM domain-containing proteins, such as COMMD1 and COMMD10 (PubMed:23563313).
Human | |
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Gene Name: | CCDC22 |
Uniprot: | O60826 |
Entrez: | 28952 |
Belongs to: |
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CCDC22 family |
chromosome X open reading frame 37; coiled-coil domain containing 22; coiled-coil domain-containing protein 22; CXorf37; JM1
Mass (kDA):
70.756 kDA
Human | |
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Location: | Xp11.23 |
Sequence: | X; NC_000023.11 (49235470..49250526) |
Widely expressed in adult tissues and in fetal liver and brain, with highest levels in prostate and lowest in skeletal muscle.
Endosome.
PMID: 24916641 by Kolanczyk M., et al. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
PMID: 21826058 by Voineagu I., et al. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.