DHTKD1
Chr 10ADARdehydrogenase E1 and transketolase domain containing 1
Also known as: AAKAD, AMOXAD, CMT2Q, E1a, OADC-E1, OADH-E1
The protein functions as the 2-oxoadipate dehydrogenase component of the mitochondrial 2-oxoadipate dehydrogenase complex, catalyzing the rate-limiting decarboxylation of 2-oxoadipate in the final degradation pathway of lysine, hydroxylysine, and tryptophan. Mutations cause either alpha-aminoadipic and alpha-ketoadipic aciduria (a metabolic disorder) or Charcot-Marie-Tooth disease type 2Q (an axonal peripheral neuropathy), with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene shows relatively low constraint against loss-of-function variants, which may explain the variable clinical presentations and inheritance patterns.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DHTKD1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools