COMMD9

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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