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Aliases for DDC Gene

Aliases for DDC Gene

  • Dopa Decarboxylase 2 3
  • Aromatic L-Amino Acid Decarboxylase 2 3
  • DOPA Decarboxylase 4 5
  • EC 4 63
  • AADC 3 4
  • Dopa Decarboxylase (Aromatic L-Amino Acid Decarboxylase) 3
  • EC 4.1.1 63

External Ids for DDC Gene

Previous GeneCards Identifiers for DDC Gene

  • GC07M049990
  • GC07M050233
  • GC07M050267
  • GC07M050300
  • GC07M050493
  • GC07M050526
  • GC07M050377

Summaries for DDC Gene

Entrez Gene Summary 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 Polyendocrine Syndrome. Among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and Histidine metabolism. GO annotations related to this gene include enzyme binding and pyridoxal phosphate binding. An important paralog of this gene is GAD1.

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.

Tocris Summary for DDC Gene

  • 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.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDC Gene

Genomics for DDC Gene

Regulatory Elements for DDC Gene

Enhancers for DDC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DDC on UCSC Golden Path with GeneCards custom track

Genomic Location for DDC Gene

50,458,436 bp from pter
50,565,457 bp from pter
107,022 bases
Minus strand

Genomic View for DDC Gene

Genes around DDC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DDC Gene

Proteins for DDC Gene

  • Protein details for DDC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Aromatic-L-amino-acid decarboxylase
    Protein Accession:
    Secondary Accessions:
    • C9IYA0
    • E7ER62
    • E7EU95
    • Q16723
    • Q5W5T9
    • Q75MJ6

    Protein attributes for DDC Gene

    480 amino acids
    Molecular mass:
    53926 Da
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for DDC Gene

    Alternative splice isoforms for DDC Gene


neXtProt entry for DDC Gene

Proteomics data for DDC Gene at MOPED

Post-translational modifications for DDC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for DDC (Dopa Decarboxylase/DDC)
  • Cell Signaling Technology (CST) Antibodies for DDC (DDC)

Domains & Families for DDC Gene

Gene Families for DDC Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the group II decarboxylase family.
  • Belongs to the group II decarboxylase family.
genes like me logo Genes that share domains with DDC: view

Function for DDC Gene

Molecular function for DDC Gene

GENATLAS Biochemistry:
DOPA decarboxylase,aromatic L-amino acid decarboxylase
UniProtKB/Swiss-Prot CatalyticActivity:
L-dopa = dopamine + CO(2).
UniProtKB/Swiss-Prot CatalyticActivity:
5-hydroxy-L-tryptophan = 5-hydroxytryptamine + CO(2).
UniProtKB/Swiss-Prot Function:
Catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine.

Enzyme Numbers (IUBMB) for DDC Gene

Gene Ontology (GO) - Molecular Function for DDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019904 protein domain specific binding IEA --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with DDC: view
genes like me logo Genes that share phenotypes with DDC: view

Human Phenotype Ontology for DDC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for DDC

miRNA for DDC Gene

miRTarBase miRNAs that target DDC

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DDC Gene

Localization for DDC Gene

Subcellular locations from

Jensen Localization Image for DDC Gene COMPARTMENTS Subcellular localization image for DDC gene
Compartment Confidence
cytosol 5
extracellular 5
cytoskeleton 3
mitochondrion 2
nucleus 2
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DDC Gene

Pathways & Interactions for DDC Gene

genes like me logo Genes that share pathways with DDC: view

UniProtKB/Swiss-Prot P20711-DDC_HUMAN

  • Pathway: Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 2/2.

Gene Ontology (GO) - Biological Process for DDC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process IEA --
GO:0007623 circadian rhythm IEA --
GO:0009636 response to toxic substance IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042423 catecholamine biosynthetic process TAS --
genes like me logo Genes that share ontologies with DDC: view

No data available for SIGNOR curated interactions for DDC Gene

Drugs & Compounds for DDC Gene

(46) Drugs for DDC Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbidopa Approved Pharma Inhibition, Inhibitor, inhibitor, Target 168
Amantadine Approved Pharma Enzyme, inducer 66
Levodopa Approved Pharma Agonist, Enzyme 374
Cycloserine Approved Pharma Enzyme, inhibitor 103
Droxidopa Approved, Investigational Pharma Enzyme, substrate 27

(35) Additional Compounds for DDC Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (1-Aminoethyl)benzene
  • 1-Amino-1-phenylethane
  • 1-Fenylethylamin
  • 1-Phenyl-1-ethanamine
  • 1-Phenylethanamine
  • 5-Hydroxykynuramine
  • Mausamine
  • Mousamine
  • 5-Hydroxy-L-kynurenine
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
  • (+/-) 3-(3,4-Dihydroxyphenyl)alanine
  • 2-Amino-3-(3,4-dihydroxyphenyl)propanoate
  • 2-Amino-3-(3,4-dihydroxyphenyl)propanoic acid
  • 3,4-Dihydroxy-DL-phenylalanine
  • 3,4-Dihydroxyphenylalanine

(3) Tocris Compounds for DDC Gene

Compound Action Cas Number
(S)-(-)-Carbidopa Aromatic L-amino acid decarboxylase inhibitor 28860-95-9
DFMO Ornithine decarboxylase inhibitor 68278-23-9
L-(-)-alpha-Methyldopa Aromatic L-amino acid decarboxylase inhibitor 555-30-6

(2) ApexBio Compounds for DDC Gene

Compound Action Cas Number
Benserazide HCl 14919-77-8
Carbidopa 28860-95-9
genes like me logo Genes that share compounds with DDC: view

Transcripts for DDC Gene

Unigene Clusters for DDC Gene

Dopa decarboxylase (aromatic L-amino acid decarboxylase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DDC Gene

No ASD Table

Relevant External Links for DDC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DDC Gene

mRNA expression in normal human tissues for DDC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DDC Gene

This gene is overexpressed in Kidney - Cortex (x21.0), Small Intestine - Terminal Ileum (x8.6), Colon - Transverse (x7.2), and Liver (x6.6).

Protein differential expression in normal tissues from HIPED for DDC Gene

This gene is overexpressed in Kidney (47.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DDC Gene

SOURCE GeneReport for Unigene cluster for DDC Gene Hs.359698

genes like me logo Genes that share expression patterns with DDC: view

Protein tissue co-expression partners for DDC Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for DDC Gene

Orthologs for DDC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDC Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia DDC 35
  • 85.04 (n)
  • 88.73 (a)
DDC 36
  • 92 (a)
(Canis familiaris)
Mammalia DDC 35
  • 84.17 (n)
  • 87.29 (a)
DDC 36
  • 87 (a)
(Mus musculus)
Mammalia Ddc 35
  • 83.96 (n)
  • 89.37 (a)
Ddc 16
Ddc 36
  • 89 (a)
(Pan troglodytes)
Mammalia DDC 35
  • 99.51 (n)
  • 99.58 (a)
DDC 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Ddc 35
  • 84.72 (n)
  • 88.54 (a)
(Monodelphis domestica)
Mammalia DDC 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia DDC 36
  • 66 (a)
(Gallus gallus)
Aves DDC 35
  • 73.52 (n)
  • 77.36 (a)
DDC 36
  • 76 (a)
(Anolis carolinensis)
Reptilia DDC 36
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ddc 35
  • 68.89 (n)
  • 74.38 (a)
Str.8146 35
(Danio rerio)
Actinopterygii ddc 35
  • 69.68 (n)
  • 72.48 (a)
wufa56d05 35
ddc 36
  • 72 (a)
fruit fly
(Drosophila melanogaster)
Insecta amd 37
  • 37 (a)
CG30445 37
  • 54 (a)
CG30446 37
  • 54 (a)
Ddc 37
  • 60 (a)
Hdc 37
  • 53 (a)
Ddc 35
  • 61.96 (n)
  • 61.05 (a)
amd 36
  • 42 (a)
Ddc 36
  • 56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009091 35
  • 61.43 (n)
  • 61.01 (a)
(Caenorhabditis elegans)
Secernentea C05D2.3 37
  • 36 (a)
F12A10.3 37
  • 34 (a)
tdc-1 37
  • 55 (a)
ZK829.2 37
  • 39 (a)
bas-1 36
  • 40 (a)
basl-1 36
  • 36 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G20340 35
  • 53.12 (n)
  • 50.75 (a)
(Oryza sativa)
Liliopsida Os07g0437500 35
  • 53.55 (n)
  • 49.46 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08275 35
  • 49.9 (n)
  • 41.72 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
-- 36
  • 49 (a)
-- 36
  • 50 (a)
-- 36
  • 51 (a)
Species with no ortholog for DDC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DDC Gene

Gene Tree for DDC (if available)
Gene Tree for DDC (if available)

Paralogs for DDC Gene

Paralogs for DDC Gene

(3) SIMAP similar genes for DDC Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with DDC: view

Variants for DDC Gene

Sequence variations from dbSNP and Humsavar for DDC Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs6264 - 50,544,037(-) ATTAC(A/G)TGGCC reference, missense
rs6262 - 50,528,222(-) CATCC(C/T)CTCAG intron-variant, reference, missense
rs6263 - 50,528,202(-) TCGCC(A/G)TGCGT intron-variant, reference, missense
VAR_019214 -
rs11575377 - 50,504,057(-) TAGAT(G/T)GTTGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DDC Gene

Variant ID Type Subtype PubMed ID
nsv888021 CNV Loss 21882294
nsv507390 CNV Insertion 20534489
nsv516640 CNV Loss 19592680
esv2678897 CNV Deletion 23128226

Variation tolerance for DDC Gene

Residual Variation Intolerance Score: 14.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DDC Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDC Gene

Disorders for DDC Gene

MalaCards: The human disease database

(19) MalaCards diseases for DDC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aromatic l-amino acid decarboxylase deficiency
  • aadc deficiency
autoimmune polyendocrine syndrome
  • autoimmune polyendocrinopathy
dopamine beta-hydroxylase deficiency
  • dopamine-beta-hydroxylase
supratentorial primitive neuroectodermal tumor
  • ewings sarcoma-primitive neuroectodermal tumor
addison's disease
  • addison disease
- elite association - COSMIC cancer census association via MalaCards
Search DDC in MalaCards View complete list of genes associated with diseases


  • Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]: 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. {ECO:0000269 PubMed:14991824, ECO:0000269 PubMed:15079002, ECO:0000269 Ref.12}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for DDC Gene

hypotonia,developmental delay and paroxysmal movements with oculogyric crises

Relevant External Links for DDC

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DDC: view

Publications for DDC Gene

  1. Human dopa decarboxylase: localization to human chromosome 7p11 and characterization of hepatic cDNAs. (PMID: 1612608) Scherer L.J. … Marsh L.J. (Genomics 1992) 2 3 4 23 67
  2. Carbidopa pretreatment improves image interpretation and visualisation of carcinoid tumours with 11C-5-hydroxytryptophan positron emission tomography. (PMID: 16184369) Orlefors H. … BergstrAPm M. (Eur. J. Nucl. Med. Mol. Imaging 2006) 23 25 26
  3. L-Dihydroxyphenylserine (L-DOPS): a norepinephrine prodrug. (PMID: 17214596) Goldstein D.S. (Cardiovasc Drug Rev 2006) 23 25 26
  4. Variable absorption of carbidopa affects both peripheral and central levodopa metabolism. (PMID: 10934669) Durso R. … Browne T.R. (J Clin Pharmacol 2000) 23 25 26
  5. Amantadine increases aromatic L-amino acid decarboxylase mRNA in PC12 cells. (PMID: 9710269) Li X.M. … Boulton A.A. (J. Neurosci. Res. 1998) 23 25 26

Products for DDC Gene

Sources for DDC Gene