PLP1 proteolipid protein 1
Gene ID: 5354, updated on 5-Mar-2024Gene type: protein coding
Also known as: PLP; PMD; HLD1; MMPL; SPG2; GPM6C; PLP/DM20
- See all available tests in GTR for this gene
- Go to complete Gene record for PLP1
- Go to Variation Viewer for PLP1 variants
Summary
This gene encodes a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant. [provided by RefSeq, Feb 2015]
Associated conditions
Copy number response
Description |
---|
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-12) ClinGen Genome Curation PagePubMedTriplosensitivity Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-12) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq22.2
- Sequence:
- Chromosome: X; NC_000023.11 (103776506..103792619)
- Total number of exons:
- 8
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for PLP1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PLP1 @ LOVD
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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