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Coiled-coil domain-containing protein 117 (CCDC117)
- Target
- CCDC117
- Molecular classification
- Other
01
Overview
Coiled-coil domain-containing protein 117 (CCDC117) is a widely conserved protein located at the mitotic spindle and in the nucleus. It facilitates DNA repair, cell cycle progression (especially G1/S transition), and cell proliferation, primarily by interacting with the cytoplasmic iron-sulfur (CIA) complex and the MMS19 protein. CCDC117 is regulated by the cardiac transcription factor Nkx2-5 and is necessary during heart development, especially for the expansion of progenitor cells in the second heart field. Loss of CCDC117 function delays the cell cycle, reduces DNA synthesis, and increases unresolved DNA damage. Genome-wide association studies have linked CCDC117 to cancer susceptibility, and gene mutations can be associated with some neurological and developmental conditions. There are currently no drugs that target CCDC117, and it is not classified as a therapeutic target.
- Other names
- CCDC117FLJ33814dJ366L4.1Coiled-coil domain-containing protein 117
02
Biological functions
Positive regulation of DNA repairCell cycle progression (especially G1/S transition)Positive regulation of cell proliferation
03
Disease associations
CancerCardiac developmental defectsNeurological conditions
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