Target intelligence / Profile preview

Coiled-coil domain-containing protein 174 (CCDC174)

Target: CCDC174
Molecular classification: Other

Overview

Coiled-coil domain-containing protein 174 (CCDC174) is a nuclear protein that is part of the exon junction complex involved in RNA processing, translation, and nonsense-mediated mRNA decay. It interacts with eukaryotic translation initiation factor 4A, isoform 3. Mutations in CCDC174 have been associated with infantile hypotonia with psychomotor retardation and actin-accumulation myopathy, and there is evidence it may play a role in neuronal development.

Other names: C3orf19FLJ33839HSPC212IHPMIHPMRctr1

Biological functions

RNA processingTranslationNonsense-mediated mRNA decayNeuronal development

Disease associations

Hypotonia (infantile hypotonia with psychomotor retardation)Actin-accumulation myopathy

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