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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MYRF
myelin regulatory factor
Chromosome 11 Β· 11q12.2
NCBI Gene: 745Ensembl: ENSG00000124920.15HGNC: HGNC:1181UniProt: Q9Y2G1
46PubMed Papers
23Diseases
0Drugs
65Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedProteaseTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of DNA-templated transcriptionoligodendrocyte differentiationoligodendrocyte developmentnucleusCardiac-urogenital syndromeencephalitis/encephalopathy, mild, with reversible myelin vacuolizationhyperopia, highgenetic disorder
✦AI Summary

MYRF (myelin regulatory factor) is a master transcription factor essential for oligodendrocyte maturation and CNS myelination 1. It recognizes the DNA sequence 5'-CTGGYAC-3' in regulatory regions to directly activate myelin genes including MBP, MOG, MAG, and PLP1 [UniProt annotation]. Uniquely, MYRF is an unconventional transmembrane transcription factor that undergoes intramolecular chaperone-mediated trimerization and self-cleavage, allowing its N-terminal DNA-binding domain to translocate to the nucleus 1. Beyond myelination maintenance, MYRF is required for nutritional regulation of oligodendrocyte differentiation affecting perineuronal net remodeling 2 and for cognitive performance during working memory training 3. MYRF haploinsufficiency causes Cardiac-Urogenital Syndrome (CUGS), characterized by congenital heart defects, genitourinary anomalies, and ocular abnormalities 45. MYRF mutations also cause nanophthalmos with associated angle-closure glaucoma through interaction with DNMT3A affecting DNA methylation and retinal cell functions 6. Patients with MYRF variants show notably thin retinal nerve fiber layers 7. The broad tissue expression and developmental lethality upon complete loss indicate MYRF's multifaceted roles extending beyond myelination, though these mechanisms remain incompletely understood 1.

Sources cited
1
MYRF is a master regulator of myelin formation; functions as an unconventional transmembrane transcription factor undergoing self-cleavage for nuclear translocation
PMID: 38488284
2
MYRF in oligodendrocyte progenitors is required for nutritional regulation of oligodendrocyte differentiation and perineuronal net remodeling
PMID: 34260928
3
Genetic blockade of MYRF-dependent oligodendrocyte differentiation impairs working memory training performance
PMID: 37838794
4
MYRF gene mutations cause Cardiac-Urogenital Syndrome with congenital heart disease, urogenital anomalies, and ocular defects
PMID: 40819034
5
MYRF haploinsufficiency causes phenotypes including congenital heart defects, genitourinary anomalies, diaphragmatic hernia, and pulmonary hypoplasia
PMID: 31069960
6
MYRF truncation mutations cause nanophthalmos and angle-closure glaucoma; MYRF interacts with DNMT3A affecting DNA methylation in retinas
PMID: 36129575
7
Patients with MYRF variants exhibit the thinnest retinal nerve fiber layer thickness among nanophthalmos gene variants
PMID: 38749530
Disease Associationsβ“˜23
Cardiac-urogenital syndromeOpen Targets
0.78Strong
encephalitis/encephalopathy, mild, with reversible myelin vacuolizationOpen Targets
0.59Moderate
hyperopia, highOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.50Moderate
microphthalmiaOpen Targets
0.48Moderate
disorder of sexual differentiationOpen Targets
0.45Moderate
nanophthalmiaOpen Targets
0.43Moderate
congenital heart diseaseOpen Targets
0.41Moderate
Abnormal heart morphologyOpen Targets
0.40Weak
disease of genitourinary systemOpen Targets
0.40Weak
congenital diaphragmatic herniaOpen Targets
0.39Weak
hyperopiaOpen Targets
0.38Weak
Genetic 46,XY disorder of sex developmentOpen Targets
0.32Weak
tenosynovitisOpen Targets
0.30Weak
synovitisOpen Targets
0.30Weak
DextrocardiaOpen Targets
0.27Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
Non-immune hydrops fetalisOpen Targets
0.27Weak
Moyamoya diseaseOpen Targets
0.24Weak
rheumatoid arthritisOpen Targets
0.23Weak
Cardiac-urogenital syndromeUniProt
Encephalitis/encephalopathy, mild, with reversible myelin vacuolizationUniProt
Nanophthalmos 1UniProt
Pathogenic Variants65
NM_001127392.3(MYRF):c.789dup (p.Ser264fs)Pathogenic
not provided|Non-immune hydrops fetalis|Cardiac-urogenital syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 264
NM_001127392.3(MYRF):c.2817G>A (p.Trp939Ter)Pathogenic
not provided|Cardiac-urogenital syndrome
β˜…β˜…β˜†β˜†2018β†’ Residue 939
NM_001127392.3(MYRF):c.3091del (p.Gln1031fs)Pathogenic
Cardiac-urogenital syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 1031
NM_001127392.3(MYRF):c.278del (p.Pro93fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 93
NM_001127392.3(MYRF):c.148_152del (p.Ile50fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 50
NM_001127392.3(MYRF):c.2512_2519dup (p.Gln841fs)Likely pathogenic
Cardiac-urogenital syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 841
NM_001127392.3(MYRF):c.1116-3C>GPathogenic
not provided|Ovarian serous cystadenocarcinoma
β˜…β˜†β˜†β˜†2024
NM_001127392.3(MYRF):c.448C>T (p.Gln150Ter)Likely pathogenic
Cardiac-urogenital syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 150
NM_001127392.3(MYRF):c.2494C>T (p.Gln832Ter)Likely pathogenic
Cardiac-urogenital syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 832
NM_001127392.3(MYRF):c.2246A>G (p.Lys749Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 749
NM_001127392.3(MYRF):c.3194+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001127392.3(MYRF):c.871C>T (p.Arg291Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 291
NM_001127392.3(MYRF):c.1415del (p.Thr472fs)Likely pathogenic
MYRF-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 472
NM_001127392.3(MYRF):c.135-119_1062delPathogenic
Cardiac-urogenital syndrome
β˜…β˜†β˜†β˜†2023
NM_001127392.3(MYRF):c.492_493del (p.Glu164fs)Pathogenic
MYRF-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 164
NM_001127392.3(MYRF):c.1241C>T (p.Pro414Leu)Likely pathogenic
MYRF-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 414
NM_001127392.3(MYRF):c.1577G>A (p.Arg526His)Likely pathogenic
MYRF-related disorder
β˜…β˜†β˜†β˜†2022β†’ Residue 526
NM_001127392.3(MYRF):c.1207C>T (p.Gln403Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 403
NM_001127392.3(MYRF):c.859_1591-84delLikely pathogenic
Cardiac-urogenital syndrome
β˜…β˜†β˜†β˜†2022
NM_001127392.3(MYRF):c.2481C>A (p.Cys827Ter)Likely pathogenic
Cardiac-urogenital syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 827
View on ClinVar β†—
Related Genes
BEST1Protein interaction83%SPO11Protein interaction79%FEN1Protein interaction77%TMEM98Protein interaction76%PLP1Protein interaction75%OLIG1Protein interaction70%
Tissue Expression6 tissues
Brain
100%
Liver
60%
Ovary
55%
Lung
40%
Bone Marrow
14%
Heart
2%
Gene Interaction Network
Click a node to explore
MYRFBEST1SPO11FEN1TMEM98PLP1OLIG1
PROTEIN STRUCTURE
Preparing viewer…
PDB5YHU Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.21Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.14 [0.10–0.21]
RankingsWhere MYRF stands among ~20K protein-coding genes
  • #9,351of 20,598
    Most Researched46
  • #1,110of 5,498
    Most Pathogenic Variants65 Β· top quartile
  • #540of 17,882
    Most Constrained (LOEUF)0.21 Β· top 5%
Genes detectedMYRF
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Remyelination protects neurons from DLK-mediated neurodegeneration.
PMID: 39443516
Nat Commun Β· 2024
1.00
2
Truncation mutations in MYRF underlie primary angle closure glaucoma.
PMID: 36129575
Hum Genet Β· 2023
0.90
3
MYRF gene mutation leading to coronary artery anomaly combined with 46,XY sex development disorder, a case report and literature review.
PMID: 40819034
BMC Pediatr Β· 2025
0.80
4
MYRF: A unique transmembrane transcription factor- from proteolytic self-processing to its multifaceted roles in animal development.
PMID: 38488284
Bioessays Β· 2024
0.70
5
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
PMID: 31069960
Am J Med Genet A Β· 2019
0.60