FANCL wt Allele

Preferred Label : FANCL wt Allele;

NCIt synonyms : PHD Finger Protein 9 Gene; FLJ10335; POG; FAAP43; PHF9; Fanconi Anemia, Complementation Group L Gene; Fanconi Anemia Complementation Group L Gene; FA Complementation Group L wt Allele;

NCIt definition : Human FANCL wild-type allele is located in the vicinity of 2p16.1 and is approximately 82 kb in length. This allele, which encodes E3 ubiquitin-protein ligase FANCL protein, plays a role in the modulation of both protein ubiquitination and Fanconi anemia complex-mediated DNA repair. Mutation of the gene is associated with Fanconi anemia.;

GenBank Accession Number : AK001197;

Détails

Origin ID

C92477;

UMLS CUI

C2985127;

OMIM relation
- Fancl gene [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p16.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Fanconi Anemia, Complementation Group L [NCIt concept]
gene_is_element_in_pathway
- BARD1 Signaling Pathway [NCIt concept]
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Regulation Process [NCIt concept]
- DNA Maintenance [NCIt concept]
- DNA Repair [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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