OBO ID: DOID:0060021
Term Name: DNA ligase IV deficiency Search Ontology:
Synonyms:
  • 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)
Relationships
is a type of:
OTHER DNA ligase IV deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LIG4 LIG4 syndrome 606593
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None