CHAT wt Allele

Preferred Label : CHAT wt Allele;

NCIt synonyms : Choline O-Acetyltransferase wt Allele; CMS1A; CMS1A2; CHOACTASE;

NCIt definition : Human CHAT wild-type allele is located in the vicinity of 10q11.2 and is approximately 85 kb in length. This allele, which encodes choline O-acetyltransferase protein, plays a role in the synthesis of acetylcholine. Mutation of the gene is associated with congenital myasthenic syndrome with episodic apnea (familial infantile myasthenia gravis 2).;

GenBank Accession Number : AF305907;

Details

Origin ID

C104886;

UMLS CUI

C3541871;

OMIM relation
- Choline acetyltransferase [OMIM gene]
See also inter- (CISMeF)
- congenital myasthenic syndrome 6 [DO Concept]
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_in_chromosomal_location
- 10q11.2 [NCIt concept]
gene_is_element_in_pathway
- Glycerophospholipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Acetylation [NCIt concept]
- Neurotransmitter Activity Induction [NCIt concept]
- Phosphatidylcholine Biosynthesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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