RAD51AP1

Chr 12

RAD51 associated protein 1

Also known as: PIR51

NCBI Gene: 10635 ENSG00000111247 UniProt: Q96B01

RAD51AP1 encodes a structure-specific DNA-binding protein that promotes RAD51-mediated homologous recombination and DNA repair by stimulating D-loop formation and binding to branched DNA structures. Mutations cause microcephaly, growth retardation, and facial dysmorphism with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants (low pLI score), consistent with the recessive inheritance pattern observed in affected patients.

ResearchSummary from RefSeq, UniProt

Enables DNA binding activity and RNA binding activity. Involved in DNA repair; cellular response to ionizing radiation; and positive regulation of DNA recombination. Located in chromatin and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.74

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429