GeneID: 305
Names
| Common Name: | COMMD7-DNMT3B | Type: | Intergenic Region |
|---|---|---|---|
| Chromosome: | 20 (NC_000020.11) | Locus: | N/A |
| HUGO Symbol: | COMMD7-DNMT3B | Full Name: | N/A |
| Exons: | N/A | Introns: | N/A |
Description:
COMMD7 (COMM domain containing 7) belongs to a protein family defined by the presence of a C-terminal motif, the COMM domain, that mediates protein-protein interactions. It is highly expressed in the lung and interacts with subunits of the nuclear factor (NF)-κB complex. It appers to play a role in NF-κB signalling and inflammation. DNMT3B (DNA methyltransferase 3 beta) is a DNA methyltransferase, which appears to function in de novo methylation, rather than maintenance methylation. It is important for development. Genetic variance in the COMMD7-DNMT3B intergenic region associated with acute chest syndrome (ACS) in patients with sickle cell disease. ACS is a form of acute lung injury caused by vaso-occlusion within the pulmonary microvasculature. Etiologies either trigger vaso-occlusion (e.g., infection, asthma, hypoventilation) or are a result of vaso-occlusion (e.g., bone marrow and fat emboli).
Synonyms: N/A
Comments:
N/A
Number of entries/variants: 1
Publications / Origin
- Melton CW, Haynes J, Sickle acute lung injury: role of prevention and early aggressive intervention strategies on outcome., Clin. Chest Med., 27(3), 487-502, vii, 2006
- Mao X, Gluck N, Chen B, Starokadomskyy P, Li H, Maine GN, Burstein E, COMMD1 (copper metabolism MURR1 domain-containing protein 1) regulates Cullin RING ligases by preventing CAND1 (Cullin-associated Nedd8-dissociated protein 1) binding., J. Biol. Chem., 286(37), 32355-65, 2011
- Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013