PLP1 Gene: Proteolipid Protein 1
Key myelin gene in CNS development and leukodystrophy
Gene Information Card
| Symbol | PLP1 |
|---|---|
| Full Name | Proteolipid Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq22.2 |
| NCBI Gene ID | 5354 ncbi.nlm.nih.gov/gene/5354 |
| Ensembl ID | ENSG00000123560 |
| UniProt ID | P60201 |
| OMIM ID | 300401 |
| HGNC ID | 9086 |
| Aliases | PLP, PMD, SPG2, HLD1, MMPL |
Description
PLP1 encodes proteolipid protein 1, the major myelin protein in the central nervous system. It is essential for the formation and maintenance of myelin sheaths. Mutations in PLP1 cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pelizaeus-Merzbacher disease | Loss of functional myelin due to PLP1 mutations; impaired oligodendrocyte differentiation | ClinVar, OMIM |
| Spastic paraplegia type 2 | PLP1 mutations lead to axonal degeneration and myelin abnormalities | ClinVar, OMIM |
| Hypomyelination of early myelinating structures | PLP1 duplications cause overexpression and myelin instability | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 124.5 | High |
| Spinal cord | 98.2 | High |
| Optic nerve | 85.0 | High |
| Heart | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oligodendrocytes | 150.0 | Primary myelin-producing cells |
| Astrocytes | 2.1 | Low expression |
| Neurons | 0.5 | Not significant |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.453C>A (p.Tyr151*) | Nonsense | Rare | Loss of function; severe PMD |
| c.560G>A (p.Arg187Gln) | Missense | Common in PMD | Dominant negative effect |
| Duplication of entire PLP1 gene | Copy number gain | Most frequent | Gain of function; milder PMD |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, leading to severe Pelizaeus-Merzbacher disease.
Gain of Function (GOF)
Duplications of the PLP1 gene result in overexpression, causing myelin instability and spastic paraplegia.
Dominant Negative (DN)
Missense mutations like p.Arg187Gln disrupt protein folding and interfere with wild-type PLP1 function.
View complete mutation data：
Gene Ontology (GO)
| • myelin sheath | • structural constituent of myelin |
| • central nervous system myelination | • protein binding |
| • integral component of membrane |
Pathways
• Myelination pathway (Reactome: R-HSA-9617629)
• Oligodendrocyte differentiation (KEGG: hsa04520)
Protein Summary
Proteolipid protein 1 (PLP1) is a 276-amino acid transmembrane protein that constitutes about 50% of CNS myelin protein. It stabilizes the myelin sheath by forming compact multilamellar structures. PLP1 is highly expressed in oligodendrocytes and is critical for axonal insulation and saltatory conduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLP1 Knockout HEK293 Cell Line | EDJ-KQ2358 | Human | 5354 | Details Get a Quote |
| APLP1 Knockout HEK293 Cell Line | EDJ-KQ3187 | Human | 333 | Details Get a Quote |
| APLP1 Knockout A-549 Cell Line | EDJ-KQ23242 | Human | 333 | Details Get a Quote |
| APLP1 Knockout HCT 116 Cell Line | EDJ-KQ24626 | Human | 333 | Details Get a Quote |
| APLP1 Knockout HeLa Cell Line | EDJ-KQ24627 | Human | 333 | Details Get a Quote |
| PLP1 Knockout HeLa Cell Line | EDJ-KQ54160 | Human | 5354 | Details Get a Quote |
| PLP1 Knockout A-549 Cell Line | EDJ-KQ62655 | Human | 5354 | Details Get a Quote |
| PLP1 Knockout HCT 116 Cell Line | EDJ-KQ71122 | Human | 5354 | Details Get a Quote |
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