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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYT1
myelin transcription factor 1
Chromosome 20 · 20q13.33
NCBI Gene: 4661Ensembl: ENSG00000196132.15HGNC: HGNC:7622UniProt: Q01538
34PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmDNA-binding transcription factor activity, RNA polymerase II-specificchromatinnucleusrestless legs syndromeneurodegenerative diseasemovement disorderautism spectrum disorder
✦AI Summary

MYT1 is a multifunctional zinc-binding transcription factor with distinct roles in neuronal development and cell cycle regulation. In the central nervous system, MYT1 functions as a DNA-binding transcription factor that regulates proteolipid protein genes and controls oligodendrocyte development 1. MYT1 safeguards neuronal identity by actively repressing non-neuronal lineage programs through recruitment of Sin3b-containing repressor complexes, while maintaining neuronal gene expression and silencing developmental pathways like Notch signaling 2. Beyond its transcriptional role, MYT1 also functions as a membrane-associated protein kinase (PKMYT1) that regulates the G2/M cell-cycle checkpoint 3. This kinase activity is essential for cell survival under genotoxic stress by controlling the transition from G2 phase to mitosis, allowing time for DNA repair 4. In pancreatic β-cells, MYT1 and its family member MYT3 regulate insulin secretion and cell survival under metabolic stress, with variants associated with Type 2 diabetes 5. Clinically, MYT1 inhibition represents a therapeutic vulnerability in cancer cells dependent on G2/M checkpoint control, showing synergy with DNA-damaging chemotherapies and checkpoint inhibitors 134. Additionally, MYT1 mutations have been identified in hemifacial microsomia, a congenital craniofacial malformation 6.

Sources cited
1
MYT1 is a checkpoint kinase targeted for cancer therapy, with inhibitors undergoing clinical evaluation
PMID: 36202931
2
MYT1l is a pan neuron-specific transcription factor that represses non-neuronal lineage programs through Sin3b recruitment and maintains neuronal identity
PMID: 28379941
3
PKMYT1 is an essential G2/M checkpoint kinase and emerging cancer therapeutic target
PMID: 39821288
4
PKMYT1 inhibition sensitizes cancer cells to alkylating agents by forcing G2/M transition without DNA repair completion
PMID: 38134889
5
MYT1 regulates human β-cell insulin secretion and survival under metabolic stress; variants associated with Type 2 diabetes
PMID: 40060649
6
MYT1 mutations are associated with hemifacial microsomia, a congenital craniofacial malformation
PMID: 30205013
Disease Associationsⓘ20
restless legs syndromeOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
movement disorderOpen Targets
0.35Weak
autism spectrum disorderOpen Targets
0.33Weak
Abnormal pupillary functionOpen Targets
0.31Weak
Sleep DisorderOpen Targets
0.31Weak
allergic diseaseOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.28Weak
Abnormal thrombosisOpen Targets
0.28Weak
respiratory system diseaseOpen Targets
0.28Weak
coronary atherosclerosisOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.27Weak
diverticular diseaseOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
hereditary spastic paraplegiaOpen Targets
0.18Weak
diabetes mellitusOpen Targets
0.10Weak
type 2 diabetes mellitusOpen Targets
0.06Suggestive
cystOpen Targets
0.04Suggestive
congenital diaphragmatic herniaOpen Targets
0.03Suggestive
diaphragmatic hernia 3Open Targets
0.03Suggestive
Pathogenic Variants1
NM_004535.3(MYT1):c.790G>C (p.Glu264Gln)Likely pathogenic
Intellectual disability
★☆☆☆2020→ Residue 264
View on ClinVar ↗
Related Genes
HERC2Protein interaction90%PLP1Protein interaction83%PKMYT1Protein interaction80%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
56%
Liver
1%
Heart
1%
Ovary
0%
Lung
0%
Gene Interaction Network
Click a node to explore
MYT1HERC2PLP1PKMYT1
PROTEIN STRUCTURE
Preparing viewer…
PDB7Q45 · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.13–0.26]
RankingsWhere MYT1 stands among ~20K protein-coding genes
  • #11,190of 20,598
    Most Researched34
  • #5,228of 5,498
    Most Pathogenic Variants1
  • #819of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedMYT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeting replication stress in cancer therapy.
PMID: 36202931
Nat Rev Drug Discov · 2023
1.00
2
C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals.
PMID: 38869949
J Clin Invest · 2024
0.90
3
Targeting G1-S-checkpoint-compromised cancers with cyclin A/B RxL inhibitors.
PMID: 40836083
Nature · 2025
0.80
4
Diabetes-associated MYT1 and MYT3 regulate human β-cell insulin secretion and survival via other diabetes-risk genes.
PMID: 40060649
bioRxiv · 2025
0.70
5
Myt1 Kinase: An Emerging Cell-Cycle Regulator for Cancer Therapeutics.
PMID: 39821288
Clin Cancer Res · 2025
0.60