PLP1 proteolipid protein 1

Gene ID: 5354, updated on 7-Apr-2024
Gene type: protein coding
Also known as: PLP; PMD; HLD1; MMPL; SPG2; GPM6C; PLP/DM20

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

See all available tests in GTR for this gene

Description	Tests
Hereditary spastic paraplegia 2 MedGen: C1839264OMIM: 312920GeneReviews: PLP1 Disorders	See labs
Pelizaeus-Merzbacher disease MedGen: C0205711OMIM: 312080GeneReviews: PLP1 Disorders	See labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-04-12) ClinGen Genome Curation PagePubMed Triplosensitivity 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

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PLP1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PLP1 @ LOVD
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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