Fanconi Anemia Group M Protein

Preferred Label : Fanconi Anemia Group M Protein;

NCIt synonyms : FANCM Protein; EC 3.6.1.13; Fanconi Anemia-Associated Polypeptide of 250 kDa; Protein FACM; ATP-Dependent RNA Helicase FANCM; FAAP250; KIAA1596 Protein; Protein Hef Ortholog;

NCIt definition : Human fanconi anemia group M protein (2048 aa, 23 kDa) is encoded by the FANCM gene. This nuclear ATPase is required for FANCD2 ubiquitination and is essential in DNA repair processes.;

Details

Origin ID

C54231;

UMLS CUI

C1708001;

OMIM relation
- Fancm gene [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- DNA Repair Gene [NCIt concept]
- FANCM Gene [NCIt concept]
gene_product_has_biochemical_function
- Fanconi Anemia Complementation Group Protein [NCIt concept]
gene_product_malfunction_associated_with_disease
- Fanconi Anemia [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Repair [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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