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 |
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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 |