TSC1 wt Allele

Preferred Label : TSC1 wt Allele;

NCIt synonyms : Tuberous Sclerosis 1 wt Allele; TSC; KIAA0243; LAM; TSC1;

NCIt definition : Human TSC1 wild-type allele is located in the vicinity of 9q34 and is approximately 53 kb in length. This allele, which encodes hamartin protein, may be involved in the mediation of vesicular transport and neuronal development. Aberrant expression or mutation of the gene is associated with tuberous sclerosis.;

GenBank Accession Number : NM_000368;

Details

Origin ID

C52312;

UMLS CUI

C1706236;

OMIM relation
- Tsc complex subunit 1 [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_has_abnormality
- TSC1 Gene Inactivation [NCIt concept]
gene_in_chromosomal_location
- 9q34 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Tuberous Sclerosis 1 [NCIt concept]
gene_is_element_in_pathway
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- LKB1 Signaling Pathway [NCIt concept]
- mTOR Signaling Pathway BioCarta [NCIt concept]
- mTOR Signaling Pathway KEGG [NCIt concept]
- mTOR Signaling Pathway PID [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Signal Transduction [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients