Protein Variants | Comment | Organism |
---|---|---|
additional information | the 1762delAAG and 588delK variants are associated with LIG4 syndrome, the 588delKvariant does not alter the reading frame of the DNA ligase IV protein but destabilizes the ligase IV protein | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
DNA ligase IV | - |
Homo sapiens |
Lig4 | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
ATP | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | DNA ligase IV deficiency syndrome (LIG4 syndrome) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, low birth weight, dysmorphic facial findings, immunodeficiency, pancytopenia, and radiosensitivity due to impaired repair of DNA double-strand breaks by non-homologous end-joining | Homo sapiens |