TARDBP wt Allele

Preferred Label : TARDBP wt Allele;

NCIt synonyms : TDP43; TAR DNA Binding Protein wt Allele; TDP-43; ALS10; TAR DNA-Binding Protein, 43-kD Gene;

NCIt definition : Human TARDBP wild-type allele is located in the vicinity of 1p36.22 and is approximately 13 kb in length. This allele, which encodes TAR DNA-binding protein 43, plays a role in the mediation of both mRNA splicing and DNA transcription. Mutation of the gene is associated with amyotrophic lateral sclerosis type 10.;

GenBank Accession Number : U23731;

Details

Origin ID

C80021;

UMLS CUI

C2699749;

OMIM relation
- Tar dna-binding protein [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
- RNA Splicing [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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