MAPT wt Allele

Preferred Label : MAPT wt Allele;

NCIt synonyms : MAPTL; MTBT2; DDPAC; FLJ31424; MSTD; PPND; FTDP-17; TAU; MTBT1; MGC138549; Microtubule-Associated Protein Tau wt Allele;

NCIt definition : Human MAPT wild-type allele is located in the vicinity of 17q21.1 and is approximately 134 kb in length. This allele, which encodes microtubule-associated protein tau, may play a role in the development and maintenance of neuronal polarity. Mutations in the gene are associated with a large number of neurodegenerative diseases.;

NCIt note : Mutations and variations in the MAPT gene are associated with Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. (Entrez Gene); 17q21 microdeletion syndrome is associated with deletions in both the MAPT gene and the CRHR1 gene. (OMIM);

GenBank Accession Number : J03778;

Details

Origin ID

C75636;

UMLS CUI

C2697954;

Automatic exact mappings (from CISMeF team)
- Frontotemporal dementia [OMIM Phenotype]
- Greek letter tau (qualifier value) [SNOMED CT concept]
- Microtubule-associated protein tau [OMIM gene]
- frontotemporal dementia [MeSH Descriptor]
- microtubule associated protein tau [ORDO Gene]
OMIM relation
- Microtubule-associated protein tau [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Alzheimer's Disease [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21.1 [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Neural Development [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Tubulin Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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