MYRFL Gene - Myelin Regulatory Factor Like
Comprehensive genomic and functional overview of MYRFL, a gene encoding a transcription factor involved in neural development and myelination.
Gene Information Card
| Symbol | MYRFL |
|---|---|
| Full Name | Myelin Regulatory Factor Like |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 286075 ncbi.nlm.nih.gov/gene/286075 |
| Ensembl ID | ENSG00000174437 |
| UniProt ID | Q8N6Y2 |
| OMIM ID | 617789 |
| HGNC ID | 33793 |
| Aliases | C12orf60, MYRF-like, MYRF-AS1 |
Description
MYRFL (Myelin Regulatory Factor Like) is a protein-coding gene located on chromosome 12q24.31. It encodes a transcription factor that belongs to the MYRF family, involved in the regulation of myelination and neural development. The gene is expressed in various tissues, particularly in the brain and nervous system, and its alterations have been implicated in neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations in MYRFL disrupt transcriptional regulation of myelination genes, leading to impaired neural development. | ClinVar, OMIM |
| Intellectual disability | Missense and nonsense variants in MYRFL are associated with cognitive impairment, likely due to defective myelin formation. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 8.3 | Low |
| Testis | 6.1 | Low |
| Heart | 2.4 | Not detected |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; relevant for neural studies |
| U-87 MG (glioblastoma) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncation of protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; premature stop codon |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown; likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MYRFL result in truncated or absent protein, leading to haploinsufficiency and neurodevelopmental phenotypes.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MYRFL.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for MYRFL.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of oligodendrocyte differentiation and myelination (Reactome: R-HSA-9616222)
• Transcriptional regulation by MYRF family members (Reactome: R-HSA-212436)
Protein Summary
MYRFL encodes a 1,150-amino acid protein that functions as a transcription factor. It contains a N-terminal DNA-binding domain and a C-terminal domain involved in protein-protein interactions. The protein is localized to the nucleus and regulates genes essential for myelination and neural development. Its expression is enriched in the brain and spinal cord, and loss-of-function mutations are associated with neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYRFL Knockout HEK293 Cell Line | EDJ-KQ11558 | Human | 196446 | Details Get a Quote |
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