DDC
Chr 7ARdopa decarboxylase
Also known as: AADC
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]
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene — mechanism propensity
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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Trial to Evaluate Safety and Efficacy of a Product Named VGN-R09b in Severe AADC Deficiency
ACTIVE NOT RECRUITINGTrametinib and Docetaxel in Treating Patients With Recurrent or Stage IV KRAS Mutation Positive Non-small Cell Lung Cancer
ACTIVE NOT RECRUITINGAdditional Support Program Via Text Messaging and Telephone-Based Counseling for Breast Cancer Patients Receiving Hormonal Therapy
ACTIVE NOT RECRUITINGLung-MAP: A Master Screening Protocol for Previously-Treated Non-Small Cell Lung Cancer
RECRUITINGA Study of SmartFlow Magnetic Resonance (MR) Compatible Ventricular Cannula for Administering Eladocagene Exuparvovec to Pediatric Participants
ACTIVE NOT RECRUITINGMRI and Gene Expression in Diagnosing Patients With Ductal Breast Cancer In Situ
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 RECRUITINGIbrutinib Before and After Stem Cell Transplant in Treating Patients With Relapsed or Refractory Diffuse Large B-cell Lymphoma
ACTIVE NOT RECRUITINGDabrafenib and Trametinib Followed by Ipilimumab and Nivolumab or Ipilimumab and Nivolumab Followed by Dabrafenib and Trametinib in Treating Patients With Stage III-IV BRAFV600 Melanoma
ACTIVE NOT RECRUITINGA Single-center, Self-controlled, Prospective Case Series Pilot Study to Assess the Effect of Lamivudine (3TC) on Neurocognitive Impairment Biomarkers and Type-I IFN (Interferon)-Stimulated Genes in the Plasma of Patients With Mild Cognitive Impairment (MCI)
ACTIVE NOT RECRUITINGHigh-Dose Interferon Alfa in Treating Patients With Stage II or Stage III Melanoma
ACTIVE NOT RECRUITINGLung-MAP: Nivolumab With or Without Ipilimumab as Second-Line Therapy in Treating Patients With Recurrent Stage IV Squamous Cell Lung Cancer and No Matching Biomarkers
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools