ALKBH5
Chr 17alkB homolog 5, RNA demethylase
Also known as: ABH5, OFOXD, OFOXD1
The ALKBH5 protein is a dioxygenase that specifically removes N6-methyladenosine (m6A) modifications from RNA, thereby regulating mRNA processing, translation, and export. Mutations in this gene cause autosomal recessive intellectual disability with delayed speech and language development. This gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.34), suggesting that complete loss of protein function is poorly tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALKBH5 · 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