COMMD9
Description
The COMMD9 (COMM domain containing 9) is a protein-coding gene located on chromosome 11.
COMMD9 is a protein encoded by the COMMD9 gene in humans. It is a COMM domain-containing protein that may modulate the activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. It may also down-regulate the activation of NF-kappa-B and modulate Na(+) transport in epithelial cells.
COMMD9 may influence the activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. It may also downregulate the activation of NF-kappa-B. Additionally, COMMD9 modulates sodium transport in epithelial cells by controlling the expression of amiloride-sensitive sodium channel (ENaC) subunits on the cell surface.
COMMD9 is also known as C11orf55, HSPC166, LINC00610.
Associated Diseases
- familial thoracic aortic aneurysm and aortic dissection
- hemoglobin D disease
- hemoglobin E-beta-thalassemia syndrome
- diabetes mellitus, permanent neonatal 4
- alpha-thalassemia-myelodysplastic syndrome
- diabetes mellitus, transient neonatal, 3
- permanent neonatal diabetes mellitus 1
- asthma
- IRIDA syndrome
- cardiomyopathy, dilated, 2G
- sideroblastic anemia 3
- X-linked sideroblastic anemia 1
- hemoglobin E disease
- dominant beta-thalassemia
