LIG1 wt Allele

Preferred Label : LIG1 wt Allele;

NCIt synonyms : Polydeoxyribonucleotide Synthase ATP 1 Gene; MGC117397; MGC130025; Ligase I, DNA, ATP-Dependent wt Allele;

NCIt definition : Human LIG1 wild-type allele is located within 19q13.2-q13.3 and is approximately 55 kb in length. This allele, which encodes DNA ligase 1 protein, is involved in DNA replication and repair. Mutations of the gene that decrease the enzymatic activity of the protein product are associated with immunodeficiency and increased sensitivity to DNA-damaging agents.;

GenBank Accession Number : NM_000234;

Details

Origin ID

C91270;

UMLS CUI

C2984126;

OMIM relation
- Ligase I, 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_in_chromosomal_location
- 19q13.2-q13.3 [NCIt concept]
gene_plays_role_in_process
- DNA Recombination Process [NCIt concept]
- DNA Replication [NCIt concept]
- Nucleotide Excision Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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