FOXL2 wt Allele

Preferred Label : FOXL2 wt Allele;

NCIt synonyms : BPES1; Forkhead Box L2 wt Allele; PFRK; PINTO; POF3; BPES; Pituitary Forkhead Factor, Mouse, Homolog of Gene;

NCIt definition : Human FOXL2 wild-type allele is located in the vicinity of 3q23 and is approximately 3 kb in length. This allele, which encodes forkhead box protein L2, is involved in both ovarian maintenance and development. Mutations in the gene are associated with blepharophimosis/ptosis/epicanthus inversus syndrome.;

GenBank Accession Number : AF301906;

Details

Origin ID

C75473;

UMLS CUI

C2700050;

False automatic mappings
- Pinto (organism) [SNOMED CT concept]
- pinto [SNOMED Notion]
OMIM relation
- Forkhead transcription factor foxl2 [OMIM gene]
See also inter- (CISMeF)
- Premature ovarian failure 3 [OMIM Phenotype]
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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q23 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- FOXL2 c.402C>G (p.Cys134Trp)-Mutant Ovarian Sertoli-Leydig Cell Tumor [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Organogenesis [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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