BCHE wt Allele

Preferred Label : BCHE wt Allele;

NCIt synonyms : E1; CHE1; Butyrylcholinesterase wt Allele;

NCIt definition : Human BCHE wild-type allele is located within 3q26.1-q26.2 and is approximately 65 kb in length. This allele, which encodes cholinesterase protein, plays a role in the hydrolysis of acylcholines. Certain allelic variants of the BCHE gene are responsible for hypocholinesterasemia, resulting in suxamethonium sensitivity and post-anesthetic apnea. Specific inherited defects in this gene are associated with Alzheimer's disease.;

GenBank Accession Number : NM_000055;

Details

Origin ID

C49361;

UMLS CUI

C1705962;

OMIM relation
- Butyrylcholinesterase [OMIM Phenotype]
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_associated_with_disease
- Apnea [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 3: 167037952-166973395 [NCIt concept]
gene_in_chromosomal_location
- 3q26.1-q26.2 [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients