Gene: LIG4
Alternate names for this Gene: LIG4S
Gene Summary: The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed.
Gene is located in Chromosome: 13
Location in Chromosome : 13q33.3
Description of this Gene: DNA ligase 4
Type of Gene: protein-coding
rs104894419 in
LIG4 gene and
Decreased antibody level in blood
PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.
rs104894419 in
LIG4 gene and
Dwarfism
PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.
rs104894419 in
LIG4 gene and
Dysmorphic features
PMID 26762768 2016 Molecular and immunological characterization of DNA ligase IV deficiency.
PMID 16357942 2006 A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
PMID 26172957 2015 Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.
PMID 17345618 2007 Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.
PMID 26151233 2015 Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity.
PMID 23372718 2013 Identification of the DNA repair defects in a case of Dubowitz syndrome.
PMID 16088910 2005 A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
PMID 15333585 2004 Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
rs104894419 in
LIG4 gene and
LIG4 Syndrome
PMID 25239263 2015 Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
PMID 15333585 2004 Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation.
PMID 27612988 2016 Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
PMID 24892279 2014 Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
PMID 27063650 2016 Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.
PMID 16088910 2005 A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.
PMID 24027040 2013 Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
PMID 23372718 2013 Identification of the DNA repair defects in a case of Dubowitz syndrome.
PMID 27855655 2016 Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
rs104894419 in
LIG4 gene and
Lymphopenia
PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.
PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
rs104894419 in
LIG4 gene and
PITUITARY DWARFISM I
PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.
rs104894419 in
LIG4 gene and
Thrombocytopenia
PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.