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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Lipophilin; major myelin proteolipid protein; Myelin proteolipid protein; myelin synthesis deficiency; PLP; proteolipid; proteolipid protein (myelin) 1; Proteolipid protein (Pelizaeus-Merzbacher disease spastic paraplegia 2 uncomplicated); Proteolipid protein (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated); rump shaker
基因别名: DM20; GPM6C; HLD1; jimpy; jp; MMPL; msd; PLP; PLP/DM20; PLP1; PMD; rsh; SPG2
UniProt ID: (Bovine) P04116, (Human) P60201, (Mouse) P60202, (Rat) P60203
Entrez Gene ID: (Bovine) 281410, (Human) 5354, (Mouse) 18823, (Rat) 24943