LIG4
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_002312.3,NM_206937.1 Gene Symbol LIG4
Protein Name Ligase iv, dna, atp-dependent
Alternate Names -
Gene Locus 13q33-q34

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
118 03500 601837 3981 3981 1IK9
2E2W
6601 ENSG00000174405 P49917 LIG4

Disease name Characteristic / Associated features Category inheritance type
LIG4 syndrome; DNA ligase IV deficiency; Omenn syndrome; RS-SCID Developmental retardation; growth retardation; facial dysmorphism; microcephaly; pancytopenia; skin abnormalities; pronounced radiosensitivity; decreased T cells; decreased B-cell numbers Combined T-cell and B-cell immunodeficiencies Autosomal recessive