Aliases for CCDC47 Gene
External Ids for CCDC47 Gene
Previous GeneCards Identifiers for CCDC47 Gene
GeneCards Summary for CCDC47 Gene
CCDC47 (Coiled-Coil Domain Containing 47) is a Protein Coding gene. Diseases associated with CCDC47 include Trichohepatoneurodevelopmental Syndrome and Atypical Choroid Plexus Papilloma. Gene Ontology (GO) annotations related to this gene include calcium ion binding.
UniProtKB/Swiss-Prot Summary for CCDC47 Gene
Involved in the regulation of calcium ion homeostasis in the endoplasmic reticulum (PubMed:30401460). Required for proper protein degradation via the ERAD pathway (PubMed:25009997). Has an essential role in the maintenance of endoplasmic reticulum organization during embryogenesis (By similarity).