METTL23 encodes methyltransferase 23, arginine (190 aa). Histone methyltransferase that dimethylates histone H3 at 'Arg-17', forming asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling. Highest expression in Testis (64.4 TPM) and Thyroid (44.0 TPM).

Intellectual disability, autosomal recessive 44 is associated with mutations in the METTL23 gene on chromosome 17.

The METTL23 protein participates in METTL23 and STGP4 (GSE) bind H3.3 dimethylarginine-17 (H3K17me2a), METTL23 dimethylates histone H3.3 arginine-17 (arginine-18 in the preprotein), and TET3 oxidizes 5-methylcytosine to 5-hydroxymethylcytosine in chromatin containing histone H3.3 pathways.

METTL23 is classified as a druggable target (Transcription Factor category) with score 0.0.

Genetic testing for METTL23 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 44 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 6 common features.

No clinical trials have been registered for intellectual disability, autosomal recessive 44.

8 publications have been identified in PubMed for intellectual disability, autosomal recessive 44. Research spans Case Report / Case Series (50%), Other (13%), and Diagnostic / Biomarker (13%).

Recent Publications

• Ting SL (2026). [PMID: 41968386](https://pubmed.ncbi.nlm.nih.gov/41968386/). *Am J Med Genet A*. [Diagnostic / Biomarker]

• Esmaeil Lashgarian H (2026). [PMID: 41625348](https://pubmed.ncbi.nlm.nih.gov/41625348/). *Iran J Med Sci*. [Case Report / Case Series]

• Asahi Y (2026). [PMID: 41791722](https://pubmed.ncbi.nlm.nih.gov/41791722/). *Anesth Prog*. [Case Report / Case Series]

• Kuzucu FN (2025). [PMID: 40293582](https://pubmed.ncbi.nlm.nih.gov/40293582/). *Metab Brain Dis*. [Epidemiology / Natural History]

• Iskafi R (2025). [PMID: 39840888](https://pubmed.ncbi.nlm.nih.gov/39840888/). *J Investig Med High Impact Case Rep*. [Review / Meta-Analysis]

• Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Mov Disord*. [Other]

• Skocy H (2025). [PMID: 40687628](https://pubmed.ncbi.nlm.nih.gov/40687628/). *Mol Genet Metab Rep*. [Case Report / Case Series]

• Zha J (2024). [PMID: 39026940](https://pubmed.ncbi.nlm.nih.gov/39026940/). *Front Pediatr*. [Case Report / Case Series]