LGI1 wt Allele

Preferred Label : LGI1 wt Allele;

NCIt synonyms : IB1099; ETL1; ADPAEF; EPT; Epilepsy, Partial Gene; EPITEMPIN; UNQ775/PRO1569; Leucine-Rich, Glioma Inactivated 1 Gene; ADLTE; Leucine Rich Glioma Inactivated 1 wt Allele; ADPEAF;

NCIt definition : Human LGI1 wild-type allele is located in the vicinity of 10q24 and is approximately 40 kb in length. This allele, which encodes leucine-rich glioma-inactivated protein 1, may be involved in both the regulation of the proliferation of various types of brain cells and neurotransmitter signal potentiation. Deletion of the wild type allele can result in autosomal dominant partial epilepsy with auditory features and the allele is expressed at reduced levels in brain tumors and malignant gliomas.;

GenBank Accession Number : NM_005097;

Details

Origin ID

C54290;

UMLS CUI

C1706323;

False automatic mappings
- Product containing teniposide (medicinal product) [SNOMED CT concept]
- Teniposide (substance) [SNOMED CT concept]
OMIM relation
- Leucine-rich gene, glioma-inactivated, 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Congenital Epilepsy [NCIt concept]
- Malignant Glioma [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 10: 95507668-95547906 [NCIt concept]
gene_in_chromosomal_location
- 10q24 [NCIt concept]
gene_plays_role_in_process
- Inhibition of Cancer Cell Growth [NCIt concept]
- Ion Transport Process [NCIt concept]
- Neuronal Transmission [NCIt concept]

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