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FLASH GENE

Symbol

SLC18A3

contributors: mct/npt - updated : 12-07-2010

HGNC name	solute carrier family 18 (vesicular acetylcholine), member 3
HGNC id	10936

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL10Q11

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in breast cancer

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

VAChT mutant mice have decreased left ventricle function associated with altered calcium handling, and phenotype was attributable to reduced cholinergic tone, since administration of the cholinesterase inhibitor pyridostigmine for 2 weeks reversed the cardiac phenotype in mutant mice (Lara 2010)