DDC
Chr 7ARdopa decarboxylase
Also known as: AADC
The encoded protein catalyzes the decarboxylation of L-DOPA to dopamine and L-5-hydroxytryptophan to serotonin, serving as a critical enzyme in neurotransmitter biosynthesis. Mutations cause aromatic L-amino acid decarboxylase deficiency, an autosomal recessive disorder resulting in combined serotonin and catecholamine deficiency that typically presents in infancy with severe neurological symptoms. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern where heterozygous carriers are unaffected.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DDC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Hormone Therapy With or Without Combination Chemotherapy in Treating Women Who Have Undergone Surgery for Node-Negative Breast Cancer (The TAILORx Trial)
ACTIVE NOT RECRUITINGOctreotide Acetate and Recombinant Interferon Alfa-2b or Bevacizumab in Treating Patients With Metastatic or Locally Advanced, High-Risk Neuroendocrine Tumor
ACTIVE NOT RECRUITINGTesting MK-3475 (Pembrolizumab) as Adjuvant Therapy for Triple Receptor-Negative Breast Cancer
ACTIVE NOT RECRUITINGEfficacy of a Prediction Model-based Algorithm to PREVENT Drug-induced Impulse Control Disorders in Parkinson's Disease
NOT YET RECRUITINGNatural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
RECRUITINGMRI and Gene Expression in Diagnosing Patients With Ductal Breast Cancer In Situ
ACTIVE NOT RECRUITINGGenetic Testing in Screening Patients With Stage IB-IIIA Non-small Cell Lung Cancer That Has Been or Will Be Removed by Surgery (The ALCHEMIST Screening Trial)
ACTIVE NOT RECRUITINGS1207 Hormone Therapy With or Without Everolimus in Treating Patients With Breast Cancer
ACTIVE NOT RECRUITINGIbrutinib Before and After Stem Cell Transplant in Treating Patients With Relapsed or Refractory Diffuse Large B-cell Lymphoma
ACTIVE NOT RECRUITINGDORAvirine Versus DOlutegravir Based Antiretroviral Regimens in Treatment-naïve People Living With HIV-1 Infection
RECRUITINGErlotinib Hydrochloride in Treating Patients With Stage IB-IIIA Non-small Cell Lung Cancer That Has Been Completely Removed by Surgery (An ALCHEMIST Treatment Trial)
ACTIVE NOT RECRUITINGLung-MAP: A Master Screening Protocol for Previously-Treated Non-Small Cell Lung Cancer
RECRUITINGExternal Resources
Links to major genomics databases and tools