Aliases for DDC Gene
External Ids for DDC Gene
Previous GeneCards Identifiers for DDC Gene
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]
GeneCards Summary for DDC Gene
DDC (Dopa Decarboxylase) is a Protein Coding gene. Diseases associated with DDC include Aromatic L-Amino Acid Decarboxylase Deficiency and Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia. Among its related pathways are Metabolism and Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction). GO annotations related to this gene include enzyme binding and pyridoxal phosphate binding. An important paralog of this gene is HDC.
UniProtKB/Swiss-Prot for DDC Gene
Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.
Decarboxylases are a group of enzymes that remove carboxyl groups (CO2H) from acidic substrates and require either pyridoxal phosphate or pyruvate as a co-factor. Decarboxylases are known for their various roles in metabolic pathways and carbohydrate synthesis.