FANCM wt Allele

Preferred Label : FANCM wt Allele;

NCIt synonyms : FAAP250; KIAA1596; Fanconi Anemia-Associated Polypeptide, 250-kD Gene; Fanconi Anemia, Complementation Group M Gene; Fanconi Anemia Complementation Group M Gene; FA Complementation Group M wt Allele;

NCIt definition : Human FANCM wild-type allele is located in the vicinity of 14q21.3 and is approximately 65 kb in length. This allele, which encodes Fanconi anemia group M protein, is involved in a specific protein ubiquination that is necessary for DNA repair. Cytogenetic aberrations in the FANCM gene are both a cause of Fanconi anemia and a predisposing factor in the development of malignancies.;

GenBank Accession Number : XM_048128;

Details

Origin ID

C54229;

UMLS CUI

C1705986;

OMIM relation
- Fancm gene [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
- Fanconi Anemia [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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