Identity
HGNC
LOCATION
Xq22.2
LOCUSID
ALIAS
GPM6C,HLD1,MMPL,PLP,PLP/DM20,PMD,SPG2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5354
MIM: 300401
HGNC: 9086
Ensembl: ENSG00000123560
Variants:
dbSNP: 5354
ClinVar: 5354
TCGA: ENSG00000123560
COSMIC: PLP1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36622199 | 2023 | PLP1 gene mutations cause spastic paraplegia type 2 in three families. | 1 |
| 37475517 | 2023 | Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2. | 1 |
| 36622199 | 2023 | PLP1 gene mutations cause spastic paraplegia type 2 in three families. | 1 |
| 37475517 | 2023 | Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2. | 1 |
| 34230963 | 2021 | Identifying oligodendrocyte enhancers governing Plp1 expression. | 11 |
| 34506833 | 2021 | Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease. | 3 |
| 34230963 | 2021 | Identifying oligodendrocyte enhancers governing Plp1 expression. | 11 |
| 34506833 | 2021 | Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease. | 3 |
| 32973782 | 2020 | Correlation Between Anti-Myelin Proteolipid Protein (PLP) Antibodies and Disease Severity in Multiple Sclerosis Patients With PLP Response-Permissive HLA Types. | 10 |
| 32973782 | 2020 | Correlation Between Anti-Myelin Proteolipid Protein (PLP) Antibodies and Disease Severity in Multiple Sclerosis Patients With PLP Response-Permissive HLA Types. | 10 |
| 30242727 | 2019 | Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1. | 4 |
| 30337681 | 2019 | Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. | 3 |
| 30242727 | 2019 | Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1. | 4 |
| 30337681 | 2019 | Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. | 3 |
| 29298733 | 2018 | Progressive striatonigral degeneration in a transgenic mouse model of multiple system atrophy: translational implications for interventional therapies. | 29 |
Citation
Dessen P
PLP1 (proteolipid protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56332/plp1-(proteolipid-protein-1)
