DNA repair-scaffolding protein is a protein that in humans is encoded by the SPIDR gene (previously KIAA0146). This protein is involved in DNA repair, in particular homologous recombination (HR) for double-strand breaks (DSB). This protein is also called scaffold protein involved in DNA repair, hence the gene symbol SPIDR.
This protein forms protein complex with SWSAP1 and ZSWIM7 called the Shu complex. This complex functions to stabilize RAD51 and DMC1 filaments on DNA, and the DMC1 stabilization is essential during meiosis. It is also needed for certain types of DNA repair like inter-homolog homologous recombination (IH-HR), where a double-strand break (DSB) is repaired using the homologous chromosome instead of the sister chromatid.
Pathogenic mutations in SPIDR are associated with severe dysfunction of the ovaries, and potentially their complete absence, called Ovarian dysgenesis-9 (ODG9). Chromosomal instability has also been noted in some individuals.
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