AKR1E2
Chr 10aldo-keto reductase family 1 member E2
Also known as: AKR1CL2, AKRDC1, HTSP1, LoopADR, TAKR, hTSP, htAKR
The protein is an aldo-keto reductase that catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose to 1,5-anhydro-D-glucitol and has low reductase activity towards other substrates. This gene is not highly constrained against loss-of-function variants and is not currently associated with any established Mendelian disease phenotypes in major clinical databases.
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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AKR1E2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools