DDC
Chr 7dopa 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]
Primary Disease Associations & Inheritance
Clinical highlights
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- eladocagene exuparvovec (Upstaza/Kebilidi)AAV gene therapyApproved · EMA 2022 / FDA 2024
AAV2-hAADC delivered to the putamen.
Delivery: Bilateral stereotactic intraputaminal infusionEligibility: ≥18 months with AADC deficiency
Therapeutic landscape as of 2026-07. Educational only. Investigational ≠ available; not medical advice or eligibility. Approved entries are precise; investigational program names/phases are conservative and move fast. Curated from FDA/EMA approvals and the clinical-trial literature; verify against current labeling + ClinicalTrials.gov.
ClinicalTrials.govPopulation Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
CompassHER2-pCR: Decreasing Chemotherapy for Breast Cancer Patients After Pre-surgery Chemo and Targeted Therapy
ACTIVE NOT RECRUITINGDuloxetine to Prevent Oxaliplatin-Induced Peripheral Neuropathy in Patients With Stage II-III Colorectal Cancer
ACTIVE NOT RECRUITINGBortezomib or Carfilzomib With Lenalidomide and Dexamethasone in Treating Patients With Newly Diagnosed Multiple Myeloma
ACTIVE NOT RECRUITINGVismodegib, FAK Inhibitor GSK2256098, Capivasertib, and Abemaciclib in Treating Patients With Progressive Meningiomas
RECRUITINGComparison of Axillary Lymph Node Dissection With Axillary Radiation for Patients With Node-Positive Breast Cancer Treated With Chemotherapy
ACTIVE NOT RECRUITINGBreast Cancer WEight Loss Study (BWEL Study)
ACTIVE NOT RECRUITINGCognitive Training for Cancer Related Cognitive Impairment in Breast Cancer Survivors
ACTIVE NOT RECRUITINGMonitoring Symptoms to Help Young Women Take Hormone Therapy for Stage I-III Breast Cancer, ASPEN Study
ACTIVE NOT RECRUITINGTesting MK-3475 (Pembrolizumab) as Adjuvant Therapy for Triple Receptor-Negative Breast Cancer
ACTIVE NOT RECRUITINGTesting the Addition of a Type of Drug Called Immunotherapy to the Usual Chemotherapy Treatment for Non-small Cell Lung Cancer, an ALCHEMIST Treatment Trial (Chemo-IO [ACCIO])
RECRUITINGA Trial to Evaluate Safety and Efficacy of a Product Named VGN-R09b in Severe AADC Deficiency
ACTIVE NOT RECRUITINGNatural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools