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Coiled-coil domain containing 47 (CCDC47)
- Target
- CCDC47
- Molecular classification
- Protein coding gene, Membrane protein (resides in the endoplasmic reticulum membrane), Component of the multi-pass translocon complex (MPT), Protein folding chaperone, Coiled-coil domain protein
01
Overview
Coiled-coil domain containing 47 (CCDC47) is a membrane protein localized to the endoplasmic reticulum (ER). It is a component of the multi-pass translocon complex, aiding in the insertion and folding of multi-pass transmembrane proteins into the ER membrane. CCDC47 acts as a chaperone and regulates calcium ion homeostasis within the ER. It is involved in the ER-associated degradation (ERAD) pathway and is necessary for maintaining the organization of the ER during embryogenesis. Its dysfunction has been linked with rare genetic syndromes such as trichohepatoneurodevelopmental syndrome and certain tumors. While CCDC47 is essential for cellular homeostasis and protein quality control, there are currently no marketed drugs targeting it directly, nor is it widely recognized as a therapeutic target in drug development.
- Other names
- CCDC47PAT complex subunit CCDC47Q96A33 (UniProtKB/Swiss-Prot accession)HGNC:24856NCBI Gene: 57003Ensembl: ENSG00000108588OMIM: 618260
02
Mechanism of action
Not applicable—no drugs target this protein, so mechanism of drug action is not established
03
Biological functions
Protein folding chaperone activityER-associated degradation (ERAD) pathwayEndoplasmic reticulum calcium ion homeostasis regulationInsertion of multi-pass transmembrane proteins into ER membrane (protein translocation)Maintenance of ER organization during embryogenesisRibosome binding
04
Disease associations
Trichohepatoneurodevelopmental syndromeAtypical choroid plexus papillomaImplicated in pathogenesis of cancers broadly (as with other CCDC proteins), but specific direct links for CCDC47 are limitedPossible association with neurodevelopmental defects and other inherited syndromes
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