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PLP1 is a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It 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 X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene.This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It 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 X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene.
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Protein Aliases: Lipophilin; major myelin proteolipid protein; Myelin proteolipid protein; PLP; proteolipid
Gene Aliases: BOS_25620; GPM6C; HLD1; MMPL; PLP; PLP/DM20; PLP1; PMD; SPG2
UniProt ID: (Bovine) P04116, (Human) P60201
Entrez Gene ID: (Bovine) 281410, (Human) 5354
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