FBXL4 wt Allele

Preferred Label : FBXL4 wt Allele;

NCIt synonyms : MTDPS13; FBL4; FBL5;

NCIt definition : Human FBXL4 wild-type allele is located within 6q16.1-q16.2 and is approximately 79 kb in length. This allele, which encodes F-box/LRR-repeat protein 4, plays a role in the promotion of ubiquitination and the maintenance of mitochondrial DNA. Missense and nonsense mutations in the gene are associated with autosomal recessive mitochondrial DNA depletion syndrome 13.;

NCI Metathesaurus CUI : CL1406233;

GenBank Accession Number : AF176699;

Details

Origin ID

C172118;

UMLS CUI

C5401292;

Automatic exact mappings (from CISMeF team)
- F-box and leucine rich repeat protein 4 [ORDO Gene]
- F-box and leucine-rich repeat protein 4 [OMIM gene]
- F-box and leucine-rich repeat protein 5 [OMIM gene]
- Mitochondrial dna depletion syndrome 13 (encephalomyopathic type) [OMIM Phenotype]
OMIM relation
- F-box and leucine-rich repeat protein 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Mitochondrial DNA Depletion Syndrome 13 [NCIt concept]
gene_plays_role_in_process
- Protein-Protein Interaction [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients