FGD4 wt Allele

Preferred Label : FGD4 wt Allele;

NCIt synonyms : CMT4H; FYVE, RhoGEF and PH Domain Containing 4 wt Allele; ZFYVE6; FRABP; Frabin Gene; FGD1 Family, Member 4 Gene;

NCIt definition : Human FGD4 wild-type allele is located in the vicinity of 12p11.21 and is approximately 246 kb in length. This allele, which encodes FYVE, RhoGEF and PH domain-containing protein 4, is involved in regulation of the actin cytoskeleton and cell shape. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 4H (CMT4H).;

GenBank Accession Number : AK057294;

Details

Origin ID

C104380;

UMLS CUI

C3540652;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease type 4H [ORDO Disease]
- Charcot-Marie-Tooth disease type 4H [DO Concept]
- Charcot-marie-tooth disease, type 4h [OMIM Phenotype]
- FYVE, RhoGEF and PH domain containing 4 [ORDO Gene]
OMIM relation
- Fyve, rhogef, and ph domain-containing protein 4 [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_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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