MSH5 wt Allele

Preferred Label : MSH5 wt Allele;

NCIt synonyms : MutS (E. coli) Homolog 5 Gene; MutS Homolog 5 (E. coli) Gene; G7; MUTSH5; MutS Homolog 4 wt Allele; MutS Homolog 5 wt Allele; NG23; MutS, E. coli, Homolog of, 5 Gene; POF13;

NCIt definition : Human MSH5 wild-type allele is located in the vicinity of 6p21.33 and is approximately 23 kb in length. This allele, which encodes MutS protein homolog 5 protein, is involved in meiotic recombination and DNA repair. Mutation of the gene is associated with premature ovarian failure 13 and may be associated with IgA deficiency or common variable immunodeficiency.;

NCI Metathesaurus CUI : CL1779157;

GenBank Accession Number : AF070071;

Details

Origin ID

C186688;

UMLS CUI

C5575584;

Automatic exact mappings (from CISMeF team)
- Premature ovarian failure 13 [OMIM Phenotype]
OMIM relation
- Muts homolog 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6p21.33 [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Meiotic Recombination [NCIt concept]
- Mismatch Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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