myelin proteolipid protein; PLP; lipophilin (PLP1, PLP)

Function

• major myelin protein in CNS
• role in the formation or maintenance of the multilamellar structure of myelin

Structure

belongs to the myelin proteolipid protein family

Compartment

membrane

Alternative splicing

named isoforms=2

Pathology

• defects in PLP1 are the cause of
  • Pelizaeus-Merzbacher disease
  • spastic paraplegia type-2

Laboratory

• PLP1 gene mutation
• PLP1 gene duplication

More general terms

• transmembrane 4 protein
• myelin protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5354
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5354
• OMIM: https://mirror.omim.org/entry/300401
• OMIM: https://mirror.omim.org/entry/312080
• OMIM: https://mirror.omim.org/entry/312920
• UniProt: http://www.uniprot.org/uniprot/P60201.html