MBP Gene - Myelin Basic Protein
Key structural component of the myelin sheath in the central nervous system
Gene Information Card
| Symbol | MBP |
|---|---|
| Full Name | Myelin Basic Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 18q23 |
| NCBI Gene ID | 4155 ncbi.nlm.nih.gov/gene/4155 |
| Ensembl ID | ENSG00000197971 |
| UniProt ID | P02686 |
| OMIM ID | 159430 |
| HGNC ID | 6925 |
| Aliases | Golli-MBP, MGC99675 |
Description
The MBP gene encodes myelin basic protein, a major constituent of the myelin sheath in the central nervous system. MBP is essential for the formation and maintenance of compact myelin, facilitating saltatory nerve conduction. Alternative splicing generates multiple isoforms, including the classic 18.5 kDa form and the larger Golli-MBP isoforms expressed during development and in the immune system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple sclerosis (MS) | Autoimmune attack against MBP leads to demyelination and neurodegeneration. | Strong association from GWAS and autoimmune studies (PMID: 17660818) |
| 18q- syndrome (deletion 18q23) | Haploinsufficiency of MBP contributes to white matter abnormalities and intellectual disability. | ClinVar: deletion encompassing MBP (PMID: 25217958) |
| Pelizaeus-Merzbacher disease (PMD) | Duplications or mutations in PLP1 cause dysmyelination; MBP expression is secondarily altered. | Indirect evidence from animal models (PMID: 1694514) |
| Leukodystrophy (unspecified) | Rare MBP missense variants may disrupt myelin compaction. | Case reports in ClinVar (VCV000013920) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 112.6 | High |
| Spinal cord | 89.3 | High |
| Optic nerve | 78.5 | High |
| Cerebellum | 65.2 | High |
| Heart | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oligodendrocytes (primary) | 245.0 | High expression |
| SH-SY5Y (neuroblastoma) | 0.5 | Very low |
| HEK293 | 0.1 | Not detected |
| U87MG (glioblastoma) | 1.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.241C>T (p.Arg81Cys) | Missense | <0.01% | Reduced myelin compaction in vitro (ClinVar) |
| c.347G>A (p.Gly116Asp) | Missense | <0.01% | Altered MBP-membrane interaction (UniProt) |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of translation initiation (COSMIC) |
| Whole gene deletion | Copy number loss | Rare | Haploinsufficiency in 18q- syndrome (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg81Cys) impair MBP binding to lipid membranes, reducing myelin compaction.
Gain of Function (GOF)
Not reported for MBP; gain-of-function is not a known mechanism.
Dominant Negative (DN)
No dominant-negative mutations described in MBP.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Myelination (REACT: 116125)
• Cell adhesion molecules (CAMs) - KEGG: hsa04514
• Neuroactive ligand-receptor interaction (indirect)
Protein Summary
Myelin basic protein (MBP) is a 18.5 kDa (classic isoform) intrinsically disordered protein that binds to the cytoplasmic leaflets of oligodendrocyte membranes, promoting myelin compaction. It undergoes extensive post-translational modifications including phosphorylation, methylation, and deimination, which modulate its interactions. MBP is also expressed in the immune system as Golli-MBP isoforms, where it may have immunomodulatory roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBP Knockout HEK293 Cell Line | EDJ-KQ3584 | Human | 4155 | Details Get a Quote |
| MBP Knockout A-549 Cell Line | EDJ-KQ25480 | Human | 4155 | Details Get a Quote |
| MBP Knockout HCT 116 Cell Line | EDJ-KQ25481 | Human | 4155 | Details Get a Quote |
| MBP Knockout HeLa Cell Line | EDJ-KQ25482 | Human | 4155 | Details Get a Quote |
