DDC, Official Symbol DDCprovided by HGNC Official Full Name dopa decarboxylaseprovided by HGNC Primary source HGNC:HGNC:2719 See related Ensembl:ENSG00000132437 MIM:107930; AllianceGenome:HGNC:2719 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AADC 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. [provided by RefSeq, Jun 2011] Expression Biased expression in kidney (RPKM 112.5), small intestine (RPKM 59.9) and 5 other tissues See more Orthologs mouse all