CDADC1

Chr 13

cytidine and dCMP deaminase domain containing 1

Also known as: NYD-SP15, bA103J18.1

NCBI Gene: 81602 ENSG00000102543 UniProt: Q9BWV3 OMIM: 618997

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables several functions, including cytidine deaminase activity; importin-alpha family protein binding activity; and protein homodimerization activity. Involved in DNA cytosine deamination. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.10

LOEUF

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Mechanism