FOXN1 wt Allele

Preferred Label : FOXN1 wt Allele;

NCIt synonyms : Winged Helix Nude Gene; Forkhead Box N1 wt Allele; Rowett Nude Gene; WHN; RONU; TLIND; FKHL20; TIDAND; Winged-Helix Nude Gene;

NCIt definition : Human FOXN1 wild-type allele is located in the vicinity of 17q11.2 and is approximately 33 kb in length. This allele, which encodes forkhead box protein N1, is involved in skin keratinization, T-cell differentiation and maintenance and development and maintenance of the thymus. Mutation of the gene is associated with T-cell immunodeficiency with thymic aplasia, autosomal dominant infantile T-cell lymphopenia (TLIND) and T-cell immunodeficiency with congenital alopecia and nail dystrophy (TIDAND).;

NCI Metathesaurus CUI : CL1642538;

GenBank Accession Number : Y11739;

Details

Origin ID

C176421;

UMLS CUI

C5444073;

Automatic exact mappings (from CISMeF team)
- Forkhead box n1 [OMIM gene]
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy [OMIM Phenotype]
- T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [OMIM Phenotype]
- forkhead box N1 [ORDO Gene]
OMIM relation
- Forkhead box n1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q11.2 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Keratinocyte Differentiation [NCIt concept]
- T-Cell Differentiation [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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