LIG1
Function
DNA ligase that seals nicks in double-stranded during DNA repair (PubMed:30395541). Also involved in DNA replication and DNA recombination.
Involvement in disease
Immunodeficiency 96
IMD96
An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ATP-dependent DNA ligase family.
Cellular localization
- Nucleus
Alternative names
DNA ligase 1, DNA ligase I, Polydeoxyribonucleotide synthase [ATP] 1, LIG1