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Literature summary for 6.5.1.1 extracted from

  • Unal, S.; Cerosaletti, K.; Uckan-Cetinkaya, D.; Cetin, M.; Gumruk, F.
    A novel mutation in a family with DNA ligase IV deficiency syndrome (2009), Pediatr. Blood Cancer, 53, 482-484.
    View publication on PubMed

Protein Variants

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
DNA ligase IV
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Homo sapiens
Lig4
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Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
Homo sapiens

General Information

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