TATDN1

Chr 8

TatD DNase domain containing 1

Also known as: CDA11

NCBI Gene: 83940 ENSG00000147687 UniProt: Q6P1N9 OMIM: 619364

The TATDN1 protein exhibits 3'-5' DNA exonuclease and AP endonuclease activities and plays an important role in chromosomal segregation and cell cycle progression during eye development via its DNA decatenation activity. Mutations cause autosomal recessive spastic paraplegia with optic atrophy and neuropathy (SPOAN syndrome), typically presenting in infancy with progressive spastic paraparesis, congenital optic atrophy, and peripheral neuropathy. The gene shows extreme intolerance to loss-of-function variants (pLI ~1), indicating that complete protein loss is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable 3'-5'-DNA exonuclease activity. Predicted to be involved in DNA metabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.58

LOEUF

Mechanism· predicted