DCLRE1C wt Allele

Preferred Label : DCLRE1C wt Allele;

NCIt synonyms : Severe Combined Immunodeficiency, Type a (Athabascan) Gene; ASCID; SNM1C; hSNM1C; OTTHUMP00000019171; SCIDA; OTTHUMP00000019172; OTTHUMP00000019167; A-SCID; FLJ36438; OTTHUMP00000019168; OTTHUMP00000019170; FLJ11360; DCLREC1C; OTTHUMP00000019166; RS-SCID; ARTEMIS; DNA Cross-Link Repair 1C (PSO2 Homolog, S. cerevisiae) Gene; PSO2 Homolog Gene; DNA Cross-Link Repair 1C wt Allele;

NCIt definition : Human DCLRE1C wild-type allele is located in the vicinity of 10p13 and is approximately 97 kb in length. This allele, which encodes protein artemis, plays a role in the mediation of both V(D)J recombination and DNA repair via nonhomologous end joining. Mutation of the gene is associated with severe combined immunodeficiency Athabaskan type and Omenn syndrome.;

GenBank Accession Number : BC022254;

Details

Origin ID

C90041;

UMLS CUI

C2983312;

OMIM relation
- Dna cross-link repair protein 1c [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
- Omenn Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10p13 [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Nonhomologous DNA End Joining [NCIt concept]
- V(D)J Recombination [NCIt concept]

Keyword's position in hierarchy(ies) :

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