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Coiled-coil domain-containing protein 82 (CCDC82)
- Target
- CCDC82
- Molecular classification
- Other (specifically, "coiled-coil domain-containing protein")
01
Overview
Coiled-coil domain-containing protein 82 (CCDC82) is a human protein encoded by the CCDC82 gene, characterized by a coiled-coil domain structure that facilitates protein-protein interactions[1]. It is mainly predicted to function in the nucleus and is implicated in cellular homeostasis, including roles in the cellular response to DNA damage through ATM-dependent phosphorylation, and in neurodevelopment[2][5]. Pathogenic variants in CCDC82 are linked to severe neurodevelopmental disorders, including syndromic intellectual disability, microcephaly, and spasticity[2][4][5]. While CCDC82 has been studied in the context of various diseases, including neurological, cardiovascular, and cancer-related conditions in research settings, it is not currently established as a therapeutic target, and no direct drug interactions are known[1][2][5].
- Other names
- HT025FLJ23518HSPC0482310043N13Rikcoiled-coil domain containing 82
02
Biological functions
Protein-protein interactionsCellular homeostasisDNA damage responseNeurodevelopment
03
Disease associations
Neurodevelopmental disorders (including syndromic intellectual disability, autism spectrum disorder, microcephaly, spasticity, infantile spasms, hypotonia)Other (potential involvement in cancer, cardiovascular, neurodegenerative disease suggested by research assays)
04
Biomarkers
CCDC82 protein levels measurable by ELISA may serve as research biomarkers for neurological and possibly other disease states, but none are clinically validated[1]
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