CCDC47
Chr 17ARcoiled-coil domain containing 47
Also known as: GK001, MSTP041, THNS
The CCDC47 protein is a component of the multi-pass translocon complex that mediates insertion of multi-pass membrane proteins into the endoplasmic reticulum and regulates ER calcium homeostasis. Autosomal recessive mutations cause trichohepatoneurodevelopmental syndrome, affecting hair, liver, and neurodevelopment. This gene is not highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CCDC47 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools