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PLP1 - proteolipid protein 1
- Synonym(s) : GPM6C, Pelizaeus-Merzbacher disease
- Previous symbols and names : PLP, SPG2, spastic paraplegia 2, uncomplicated
- Type : gene with protein product
- Chromosomal location : Xq22.2
- OMIM: 300401
- HGNC: 9086
- UniProtKB: P60201
- Genatlas: PLP1
- GenCC: PLP1
- Ensembl: ENSG00000123560
- IUPHAR-DB: -
- Reactome: -
- LOVD: PLP1
Diseases list
- Disease-causing germline mutation(s) in Hypomyelination of early myelinating structures
ORPHA:599376 
- Disease-causing germline mutation(s) in Null syndrome
ORPHA:280234 - Disease-causing germline mutation(s) in Pelizaeus-Merzbacher disease, classic form
ORPHA:280219 - Disease-causing germline mutation(s) in Pelizaeus-Merzbacher disease, connatal form
ORPHA:280210 - Disease-causing germline mutation(s) in Pelizaeus-Merzbacher disease in female carriers
ORPHA:280229 - Disease-causing germline mutation(s) in Pelizaeus-Merzbacher disease, transitional form
ORPHA:280224 - Disease-causing germline mutation(s) in Spastic paraplegia type 2
ORPHA:99015
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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