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. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
应用类型
IHC,WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 1-100 of human DDC (NP_000781.1).
