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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.
Gene Name: | dopa decarboxylase (aromatic L-amino acid decarboxylase) |
Family/Subfamily: | Carboxy-lyase , Not assigned-Other |
Synonyms: | DDC, AADC, DOPA decarboxylase |
Target Sequences: | NM_000790 NP_000781.1 P20711 |
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