FLCN wt Allele

Preferred Label : FLCN wt Allele;

NCIt synonyms : BHD; MGC17998; MGC23445; FLCL; Folliculin wt Allele; BDH Gene;

NCIt definition : Human FLCN wild-type allele is located in the vicinity of 17p11.2 and is approximately 25 kb in length. This allele, which encodes folliculin protein may play a role in tumor suppression, but an exact function has yet to be identified. Mutations or aberrations in the gene result in Birt-Hogg-Dube syndrome.;

GenBank Accession Number : NM_144606;

Détails

Origin ID

C63517;

UMLS CUI

C1880655;

OMIM relation
- Folliculin [OMIM gene]
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
- 17p11.2 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Birt-Hogg-Dube Syndrome [NCIt concept]
- Chromophobe Renal Cell Carcinoma Associated with Birt-Hogg-Dube Syndrome [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation Regulatory Process [NCIt concept]
- Tumor Suppression [NCIt concept]
- Tumorigenesis [NCIt concept]

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

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