LIG4 wt Allele

Preferred Label : LIG4 wt Allele;

NCIt synonyms : Ligase IV, DNA, ATP-Dependent Gene; DNA Ligase IV Gene; LIG4S; DNA Ligase 4 wt Allele;

NCIt definition : Human LIG4 wild-type allele is located within 13q33-q34 and is approximately 11 kb in length. This allele, which encodes DNA ligase 4 protein, is involved in nonhomologous DNA end joining and in V(D)J recombination. Defects in the gene produce allelic variants that are the cause of LIG4 syndrome.;

GenBank Accession Number : NM_002312;

Details

Origin ID

C50990;

UMLS CUI

C1708621;

Automatic exact mappings (from CISMeF team)
- DNA Ligase ATP [MeSH Descriptor]
- Ligase iv, dna, atp-dependent [OMIM gene]
OMIM relation
- Ligase iv, dna, atp-dependent [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 13: 107665883-107657795 [NCIt concept]
gene_in_chromosomal_location
- 13q22-q34 [NCIt concept]
gene_is_element_in_pathway
- Non-Homologous End-Joining Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Nonhomologous DNA End Joining [NCIt concept]
- V(D)J Recombination [NCIt concept]

Keyword's position in hierarchy(ies) :

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