The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine 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 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.
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Protein Aliases: AADC; aromatic L-amino acid decarboxylase; Aromatic-L-amino-acid decarboxylase; DDC; DOPA decarboxylase; dopa decarboxylase (aromatic L-amino acid decarboxylase); HGNC:2719
Gene Aliases: AADC; DDC
UniProt ID: (Human) P20711
Entrez Gene ID: (Human) 1644