NHEJ1 wt Allele

Preferred Label : NHEJ1 wt Allele;

NCIt synonyms : XLF; Nonhomologous End-Joining Factor 1 wt Allele; Cernunnos Gene; FLJ12610; NEJ1, S. cerevisiae, Homolog of Gene;

NCIt definition : Human NHEJ1 wild-type allele is located in the vicinity of 2q35 and is approximately 85 kb in length. This allele, which encodes nonhomologous end-joining factor 1 protein, plays a role in the mediation of both V(D)J recombination and the repair of damaged DNA. Mutation of the gene is involved in a form of severe combined immunodeficiency.;

GenBank Accession Number : AJ972687;

Details

Origin ID

C88514;

UMLS CUI

C2982011;

OMIM relation
- Nonhomologous end-joining factor 1 [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_associated_with_disease
- Severe Combined Immunodeficiency with Absence of T and B Cells [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q35 [NCIt concept]
gene_is_element_in_pathway
- Non-Homologous End-Joining Pathway [NCIt concept]
gene_plays_role_in_process
- B-Cell Differentiation [NCIt concept]
- DNA Repair [NCIt concept]
- Double Strand Break Repair [NCIt concept]
- Nonhomologous DNA End Joining [NCIt concept]
- T-Cell Differentiation [NCIt concept]
- V(D)J Recombination [NCIt concept]

Keyword's position in hierarchy(ies) :

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