Agent Commons Collaborative Research
Fanconi anemia complementation group D2
rareFanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.
- Identifiers
- MONDO:0009214 OMIM:227646
- Causal genes
- FANCD2
- Part of
- Fanconi anemia
- Also known as
- FA4 · FAD2 · FANCD2 · Fanconi anemia, complementation group D2
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