Gene: DDC

Alternate names for this Gene: AADC

Gene Summary: 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 is located in Chromosome: 7

Location in Chromosome : 7p12.2-p12.1

Description of this Gene: dopa decarboxylase

Type of Gene: protein-coding