DDC Human Recombinant Protein

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]

DDC: Catalyzes the decarboxylation of L-3,4- dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Homodimer. Belongs to the group II decarboxylase family.

Protein type: Amino Acid Metabolism - tryptophan; EC 4.1.1.28; Amino Acid Metabolism - histidine; Amino Acid Metabolism - tyrosine; Nuclear receptor co-regulator; Amino Acid Metabolism - phenylalanine; Lyase

Chromosomal Location of Human Ortholog: 7p12.2

Cellular Component: synaptic vesicle; cell soma; axon; cytosol

Molecular Function: aromatic-L-amino-acid decarboxylase activity; protein domain specific binding; amino acid binding; protein binding; enzyme binding; pyridoxal phosphate binding

Biological Process: circadian rhythm; amino acid metabolic process; catecholamine biosynthetic process; indolalkylamine biosynthetic process; multicellular organismal aging; isoquinoline alkaloid metabolic process; dopamine biosynthetic process; serotonin biosynthetic process; phytoalexin metabolic process; synaptic vesicle amine transport; response to pyrethroid

Disease: Aromatic L-amino Acid Decarboxylase Deficiency