MYT1L: A Key Transcriptional Regulator in Neuronal Development and Its Clinical Significance
Explore the MYT1L gene, its role in neurodevelopment, associated disorders, expression patterns, and mutation landscape.
Gene Information Card
| Symbol | MYT1L |
|---|---|
| Full Name | myelin transcription factor 1 like |
| Gene Type | protein coding |
| Chromosomal Location | 2p25.3 |
| NCBI Gene ID | 23040 ncbi.nlm.nih.gov/gene/23040 |
| Ensembl ID | ENSG00000186487 |
| UniProt ID | Q9UL68 |
| OMIM ID | 613084 |
| HGNC ID | 7623 |
| Aliases | myT1l, ZC2HC2A, MRD39 |
Description
MYT1L (myelin transcription factor 1 like) encodes a zinc-finger transcription factor that is essential for neuronal differentiation and maturation. It is highly expressed in the developing and adult brain, where it regulates the expression of genes involved in neurogenesis, axon guidance, and synaptic function. Mutations and copy-number variations in MYT1L are associated with a spectrum of neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and obesity. This gene is also implicated in psychiatric conditions such as schizophrenia and bipolar disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability (autosomal dominant 39) | Haploinsufficiency due to loss-of-function mutations or deletions | ClinVar, OMIM |
| Obesity (early-onset) | Disruption of hypothalamic feeding circuits via MYT1L haploinsufficiency | ClinVar, literature |
| Autism spectrum disorder | De novo loss-of-function variants affecting neuronal gene regulation | ClinVar, literature |
| Schizophrenia | Common variants and rare CNVs in MYT1L contribute to risk | GWAS, literature |
| Bipolar disorder | Rare variants and expression changes in brain tissue | Literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | High (e.g., >50 nTPM) | High |
| Brain (cerebellum) | Moderate | Medium |
| Testis | Low | Low |
| Other tissues | Very low or not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal model |
| SK-N-SH (neuroblastoma) | High | Neuronal model |
| HeLa (cervical carcinoma) | Low | Non-neuronal |
| HepG2 (hepatocellular carcinoma) | Low | Non-neuronal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334Ter) | Nonsense | Rare (de novo) | Loss-of-function, haploinsufficiency |
| c.1500delA (p.Glu500fs) | Frameshift | Rare (de novo) | Loss-of-function, haploinsufficiency |
| Whole gene deletion | Copy-number loss | Rare (de novo) | Haploinsufficiency |
| c.2000A>G (p.Asn667Ser) | Missense | Unknown | Potential dominant-negative or loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Most MYT1L mutations are loss-of-function, leading to haploinsufficiency. This is the primary mechanism for intellectual disability and obesity.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported for MYT1L.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with dimerization or DNA binding, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • metal ion binding | • regulation of transcription by RNA polymerase II |
| • nervous system development | • neuron differentiation |
| • axon guidance | • synaptic transmission |
Pathways
• Neurogenesis and neuronal differentiation
• Transcriptional regulation in brain development
• Hypothalamic feeding behavior regulation
Protein Summary
The MYT1L protein is a C2HC-type zinc-finger transcription factor that binds to DNA and regulates gene expression. It is predominantly expressed in the nervous system, where it promotes neuronal identity and suppresses non-neuronal fates. MYT1L interacts with chromatin remodeling complexes and other transcription factors to control the expression of genes critical for neuronal maturation and function. Its dysfunction is linked to neurodevelopmental and psychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYT1L Knockout HEK293 Cell Line | EDJ-KQ7787 | Human | 23040 | Details Get a Quote |
| MYT1L Knockout HeLa Cell Line | EDJ-KQ55679 | Human | 23040 | Details Get a Quote |
| MYT1L Knockout A-549 Cell Line | EDJ-KQ64178 | Human | 23040 | Details Get a Quote |
| MYT1L Knockout HCT 116 Cell Line | EDJ-KQ72620 | Human | 23040 | Details Get a Quote |
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