MYRF: Myelin Regulatory Factor
A key transcription factor for central nervous system myelination and oligodendrocyte differentiation
Gene Information Card
| Symbol | MYRF |
|---|---|
| Full Name | Myelin Regulatory Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 745 ncbi.nlm.nih.gov/gene/745 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q9Y2G1 |
| OMIM ID | 608329 |
| HGNC ID | 7581 |
| Aliases | C11orf9, MRF, Ndt80, TMEM98 |
Description
MYRF (myelin regulatory factor) is a transcription factor essential for the development and maintenance of myelin in the central nervous system. It regulates the expression of myelin-related genes in oligodendrocytes and is critical for oligodendrocyte differentiation and myelination. Mutations in MYRF are associated with hypomyelinating leukodystrophy and congenital cataract.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypomyelinating leukodystrophy 11 (HLD11) | Loss-of-function mutations impair oligodendrocyte differentiation and myelin production, leading to CNS hypomyelination. | ClinVar, OMIM |
| Congenital cataract, with or without microcornea | Dominant-negative or missense mutations disrupt MYRF function in lens development, causing cataract formation. | ClinVar, OMIM |
| Myelination disorder, autosomal recessive | Biallelic loss-of-function variants result in severe hypomyelination and neurological deficits. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Spinal cord | 12.8 | High |
| Optic nerve | 10.5 | High |
| Testis | 3.1 | Medium |
| Lung | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oligodendrocytes (primary) | 25.0 | High expression; key cell type for MYRF function |
| MO3.13 (oligodendrocyte precursor) | 18.5 | Moderate expression; increases upon differentiation |
| SH-SY5Y (neuroblastoma) | 0.5 | Low expression |
| HEK293 (embryonic kidney) | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1603C>T (p.Arg535*) | Nonsense | Rare | Loss of function; truncation of C-terminal domain |
| c.1996G>A (p.Gly666Arg) | Missense | Rare | Dominant-negative effect; disrupts DNA binding |
| c.2269_2270del (p.Gln757fs) | Frameshift | Rare | Loss of function; premature termination |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that reduce or abolish MYRF protein expression or function, leading to hypomyelination.
Gain of Function (GOF)
Not reported for MYRF; no activating mutations described.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly666Arg) that interfere with wild-type MYRF function, often associated with congenital cataract.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Oligodendrocyte differentiation and myelination (Reactome: R-HSA-9617324)
• Transcriptional regulation of myelin genes (KEGG: map04510)
Protein Summary
MYRF is a 1,149-amino-acid transcription factor containing an N-terminal DNA-binding domain (DBD) with a conserved Ndt80-like domain, a central coiled-coil region, and a C-terminal transcriptional activation domain. It forms homotrimers and binds to specific promoter elements of myelin-related genes such as MBP, PLP1, and MAG. MYRF is synthesized as a transmembrane precursor that undergoes autocatalytic cleavage to release the N-terminal fragment, which translocates to the nucleus to activate transcription. Its expression is highly enriched in oligodendrocytes and is essential for CNS myelination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYRF Knockout HEK293 Cell Line | EDJ-KQ1012 | Human | 745 | Details Get a Quote |
| MYRFL Knockout HEK293 Cell Line | EDJ-KQ11558 | Human | 196446 | Details Get a Quote |
| MYRF Knockout A-549 Cell Line | EDJ-KQ20077 | Human | 745 | Details Get a Quote |
| MYRF Knockout HCT 116 Cell Line | EDJ-KQ20078 | Human | 745 | Details Get a Quote |
| MYRF Knockout HeLa Cell Line | EDJ-KQ20079 | Human | 745 | Details Get a Quote |
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