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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DDC
dopa decarboxylase
Chromosome 7 Β· 7p12.2-p12.1
NCBI Gene: 1644Ensembl: ENSG00000132437.18HGNC: HGNC:2719UniProt: A0A087WU57
139PubMed Papers
21Diseases
4Drugs
92Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
L-dopa decarboxylase activityprotein bindingextracellular exosomedopamine biosynthetic processaromatic L-amino acid decarboxylase deficiencyParkinson diseaseAbnormality of the skeletal systemgenetic disorder
✦AI Summary

DDC (dopa decarboxylase) encodes an enzyme that catalyzes the decarboxylation of L-DOPA to dopamine and L-5-hydroxytryptophan to serotonin, representing a critical step in neurotransmitter biosynthesis 1. The enzyme is essential for the final step in dopamine synthesis and is involved in catecholamine and serotonin metabolic pathways 1. DDC operates through aromatic L-amino acid decarboxylase activity, converting aromatic amino acid precursors into their corresponding neurotransmitters. Common genetic variations in DDC have been shown to influence enzyme activity in the human brain, with specific haplotypes predicting DDC activity levels measured by PET imaging, particularly in the ventral striatum 2. Clinically, DDC deficiency causes aromatic L-amino-acid decarboxylase (AADC) deficiency, a severe neurological disorder characterized by autonomic, motor, and cognitive impairment 2. Gene therapy approaches using adeno-associated virus vectors to deliver the DDC gene have been developed as treatment, with eladocagene exuparvovec receiving approval for severe AADC deficiency 3. Additionally, DDC has emerged as a promising biomarker for early Parkinson's disease, with elevated levels in cerebrospinal fluid and urine correlating with clinical symptom severity and enabling accurate diagnosis of PD and prodromal PD 1.

Sources cited
1
DDC catalyzes the final step in dopamine synthesis and is upregulated in early Parkinson's disease
PMID: 38467937
2
Common DDC genetic variations influence enzyme activity in human brain striatum
PMID: 26924680
3
Gene therapy using DDC gene delivery has been approved for AADC deficiency treatment
PMID: 36103022
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
aromatic L-amino acid decarboxylase deficiencyOpen Targets
0.84Strong
Parkinson diseaseOpen Targets
0.61Moderate
Abnormality of the skeletal systemOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.50Moderate
injuryOpen Targets
0.50Moderate
inborn disorder of amino acid metabolismOpen Targets
0.46Moderate
postencephalitic Parkinson diseaseOpen Targets
0.38Weak
DystoniaOpen Targets
0.37Weak
developmental disabilityOpen Targets
0.37Weak
HypotoniaOpen Targets
0.37Weak
oculogyric crisisOpen Targets
0.37Weak
secondary Parkinson diseaseOpen Targets
0.37Weak
rasopathyOpen Targets
0.34Weak
restless legs syndromeOpen Targets
0.32Weak
type 2 diabetes mellitusOpen Targets
0.31Weak
benign neoplasm of adrenal glandOpen Targets
0.31Weak
exostosisOpen Targets
0.31Weak
psoriasisOpen Targets
0.29Weak
amblyopiaOpen Targets
0.28Weak
strokeOpen Targets
0.27Weak
Aromatic L-amino-acid decarboxylase deficiencyUniProt
Pathogenic Variants92
NM_001082971.2(DDC):c.714+4A>TPathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β˜…β˜…β˜†β˜†2026
NM_001082971.2(DDC):c.1123C>T (p.Gln375Ter)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β˜…β˜…β˜†β˜†2026β†’ Residue 375
NM_001082971.2(DDC):c.286G>A (p.Gly96Arg)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 96
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|See cases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 347
NM_001082971.2(DDC):c.128del (p.Pro43fs)Pathogenic
Inborn genetic diseases|Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 43
NM_001082971.2(DDC):c.19C>T (p.Arg7Ter)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 7
NM_001082971.2(DDC):c.201+5G>CPathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025
NM_001082971.2(DDC):c.201+1G>CLikely pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β˜…β˜…β˜†β˜†2025
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 275
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 447
NM_001082971.2(DDC):c.710T>C (p.Phe237Ser)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β˜…β˜…β˜†β˜†2025β†’ Residue 237
NM_001082971.2(DDC):c.242C>T (p.Pro81Leu)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β˜…β˜…β˜†β˜†2025β†’ Residue 81
NM_001082971.2(DDC):c.206C>T (p.Thr69Met)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β˜…β˜…β˜†β˜†2025β†’ Residue 69
NM_001082971.2(DDC):c.272C>T (p.Ala91Val)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 91
NM_001082971.2(DDC):c.1073G>A (p.Arg358His)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 358
NM_001082971.2(DDC):c.367G>C (p.Gly123Arg)Likely pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β˜…β˜…β˜†β˜†2025β†’ Residue 123
NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|not provided|RASopathy
β˜…β˜…β˜†β˜†2025β†’ Residue 412
NM_000790.4(DDC):c.316delPathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β˜…β˜…β˜†β˜†2025
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 416
NM_001082971.2(DDC):c.1297dup (p.Ile433fs)Pathogenic
Deficiency of aromatic-L-amino-acid decarboxylase
β˜…β˜…β˜†β˜†2024β†’ Residue 433
View on ClinVar β†—
Drug Targets4
BENSERAZIDEPhase III
DOPA decarboxylase inhibitor
restless legs syndrome
CARBIDOPAApproved
DOPA decarboxylase inhibitor
Parkinson disease
ELADOCAGENE EXUPARVOVECApproved
DDC exogenous gene
inborn disorder of amino acid metabolism
FOSCARBIDOPAUNKNOWN
DOPA decarboxylase inhibitor
Parkinson disease
Related Genes
TATProtein interaction98%GOT1Protein interaction98%TPH1Protein interaction98%QDPRProtein interaction97%TDO2Protein interaction96%TPH2Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Liver
23%
Ovary
0%
Lung
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
DDCTATGOT1TPH1QDPRTDO2TPH2
PROTEIN STRUCTURE
Preparing viewer…
PDB9HRH Β· 1.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.55–0.92]
RankingsWhere DDC stands among ~20K protein-coding genes
  • #3,307of 20,598
    Most Researched139 Β· top quartile
  • #579of 1,025
    FDA-Approved Drug Targets2
  • #832of 5,498
    Most Pathogenic Variants92 Β· top quartile
  • #8,470of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedDDC
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
GDF15 Ameliorates Liver Fibrosis by Metabolic Reprogramming of Macrophages to Acquire Anti-Inflammatory Properties.
PMID: 37499753
Cell Mol Gastroenterol Hepatol Β· 2023
1.00
2
Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson's disease.
PMID: 38467937
Acta Neuropathol Β· 2024
0.90
3
Chronic Liver Injury Induces Conversion of Biliary Epithelial Cells into Hepatocytes.
PMID: 29937200
Cell Stem Cell Β· 2018
0.80
4
Zalcitabine.
PMID: 8097417
Ann Pharmacother Β· 1993
0.70
5
Eladocagene Exuparvovec: First Approval.
PMID: 36103022
Drugs Β· 2022
0.60