CDADC1
Chr 13cytidine and dCMP deaminase domain containing 1
Also known as: NYD-SP15, bA103J18.1
The protein catalyzes the deamination of cytidine and deoxycytidine into uridine and deoxyuridine, respectively, and may play an important role in testicular development and spermatogenesis. Mutations cause autosomal recessive primary immunodeficiency with defective lymphocyte apoptosis and autoimmunity. This gene is extremely intolerant to loss-of-function variants, suggesting complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CDADC1 · 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