ALKBH5

Chr 17

alkB homolog 5, RNA demethylase

Also known as: ABH5, OFOXD, OFOXD1

NCBI Gene: 54890 ENSG00000091542 UniProt: Q6P6C2

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.

ResearchSummary from RefSeq, UniProt

Enables mRNA N6-methyladenosine dioxygenase activity and molecular condensate scaffold activity. Involved in membraneless organelle assembly; post-transcriptional regulation of gene expression; and response to hypoxia. Acts upstream of or within regulation of mRNA export from nucleus and regulation of mRNA processing. Located in Golgi apparatus; cytosol; and nuclear speck. Is active in paraspeckles. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

391

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.34

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)