Short name= AADC
Short name= DDC
Store at -20°C, for extended storage, conserve at -20°C or -80°C.
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Two transcript variants encoding the same protein have been identified for this gene.