DDC

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. [provided by RefSeq, Jun 2011]

Dopa Decarboxylase

Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.

Aminergic neurotransmitter loading into synaptic vesicle Source: Ensembl
Catecholamine biosynthetic process Source: Reactome
Catecholamine metabolic process Source: GO_Central
Cellular amino acid metabolic process Source: InterPro
Cellular response to alkaloid Source: Ensembl
Cellular response to drug Source: Ensembl
Cellular response to growth factor stimulus Source: Ensembl
Circadian rhythm Source: Ensembl
Dopamine biosynthetic process Source: UniProtKB-UniPathway
Indolalkylamine biosynthetic process Source: Reactome
Isoquinoline alkaloid metabolic process Source: Ensembl
Multicellular organism aging Source: Ensembl
Phytoalexin metabolic process Source: Ensembl
Response to pyrethroid Source: Ensembl
Serotonin biosynthetic process Source: GO_Central

Cytosol; Extracellular exosome; Axon; Cytoplasm; Neuronal cell body; Synaptic vesicle

Aromatic L-amino-acid decarboxylase deficiency (AADCD):
An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive.