Search Ontology:
Human Disease
DNA ligase IV deficiency
- Term ID
- DOID:0060021
- Synonyms
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- LIG4 Syndrome
- Definition
- A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. (2)
- References
- Ontology
- Human Disease ( DOID:0060021 )
- is a type of
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Genes Involved
Zebrafish Models