METTL23

Chr 17

methyltransferase 23, arginine

Also known as: C17orf95, MRT44

NCBI Gene: 124512ENSG00000181038UniProt: Q86XA0

The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 44

Clinical highlights

Gene-disease validity (ClinGen)
intellectual disability · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.77
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.77LOEUF
pLI 0.000
Z-score -0.30
OE 1.11 (0.68–1.77)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.97Z-score
OE missense 1.28 (1.10–1.49)
123 obs / 96.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.11 (0.68–1.77)
0≤0.351.4
Missense OE?1.28 (1.10–1.49)
0≤0.61.4
Synonymous OE?1.21
0≤1.21.6
LoF obs/exp: 10 / 9.0Missense obs/exp: 123 / 96.1Syn Z: -0.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

METTL23 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients