METTL23 Gene - Methyltransferase Like 23
A gene encoding a protein involved in chromatin modification and transcriptional regulation, associated with intellectual disability and neurodevelopmental disorders.
Gene Information Card
| Symbol | METTL23 |
|---|---|
| Full Name | Methyltransferase Like 23 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 124512 ncbi.nlm.nih.gov/gene/124512 |
| Ensembl ID | ENSG00000187664 |
| UniProt ID | Q5VZV1 |
| OMIM ID | 615262 |
| HGNC ID | 26996 |
| Aliases | C17orf95, METTL23A, METTL23B |
Description
METTL23 (Methyltransferase Like 23) is a protein-coding gene located on chromosome 17q25.3. The encoded protein belongs to the methyltransferase-like family and is involved in chromatin modification, specifically histone methylation. METTL23 has been implicated in transcriptional regulation and is associated with autosomal recessive intellectual disability (MRT44) and other neurodevelopmental disorders. The gene is expressed in multiple tissues, with highest levels in the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder, autosomal recessive 44 (MRT44) | Loss-of-function mutations in METTL23 impair histone methylation and transcriptional regulation, leading to neurodevelopmental deficits. | OMIM #615262; ClinVar; multiple case reports |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | Homozygous or compound heterozygous METTL23 variants disrupt protein function, affecting brain development. | ClinVar; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Thyroid | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| HEK293 (embryonic kidney) | 7.8 | Common expression system |
| HeLa (cervical carcinoma) | 5.3 | Epithelial cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.286C>T (p.Arg96*) | Nonsense | Rare | Loss of function; premature termination |
| c.404G>A (p.Arg135Gln) | Missense | Rare | Likely damaging; reduced protein stability |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function mutations (nonsense, frameshift, start loss) cause autosomal recessive intellectual disability (MRT44).
Gain of Function (GOF)
No gain-of-function mutations reported in METTL23.
Dominant Negative (DN)
No dominant-negative mutations reported in METTL23.
View complete mutation data：
Gene Ontology (GO)
| • methyltransferase activity (GO:0008168) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • chromatin organization (GO:0006325) |
| • histone-lysine N-methyltransferase activity (GO:0018024) |
Pathways
• Chromatin modifying enzymes
• Histone methylation
Protein Summary
The METTL23 protein (UniProt Q5VZV1) is a 237-amino acid methyltransferase-like enzyme localized to the nucleus. It contains a methyltransferase domain and is predicted to catalyze histone lysine methylation, thereby influencing chromatin structure and gene expression. METTL23 is highly conserved in vertebrates and is essential for normal brain development. Loss of function leads to intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| METTL23 Knockout HEK293 Cell Line | EDJ-KQ8571 | Human | 124512 | Details Get a Quote |
| METTL23 Knockout A-549 Cell Line | EDJ-KQ34732 | Human | 124512 | Details Get a Quote |
| METTL23 Knockout HCT 116 Cell Line | EDJ-KQ34733 | Human | 124512 | Details Get a Quote |
| METTL23 Knockout HeLa Cell Line | EDJ-KQ34734 | Human | 124512 | Details Get a Quote |
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