Predicted to react with all mammals based on sequence homology.
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: HLD1; Lipophilin; major myelin proteolipid protein; MMPL; Myelin proteolipid protein; myelin synthesis deficiency; PLP; PLP/DM20; PMD; proteolipid protein (myelin) 1; Proteolipid protein (Pelizaeus-Merzbacher disease spastic paraplegia 2 uncomplicated); Proteolipid protein (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated); proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated); rump shaker; SPG2
Gene Aliases: BOS_25620; DM20; GPM6C; HLD1; jimpy; jp; MMPL; msd; PLP; PLP/DM20; PLP1; PMD; rsh; SPG2