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plp1

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Official Full Name
proteolipid protein 1
Background
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.
Synonyms
PLP1; PMD; HLD1; MMPL; SPG2; PLP/DM20; PLP; proteolipid protein 1; myelin proteolipid protein; lipophilin; OTTHUMP00000023761; OTTHUMP00000023762; major myelin proteolipid protein; spastic paraplegia 2, uncomplicated; PLP, spastic paraplegia 2, uncomplicated , SPG2; Pelizaeus Merzbacher disease; proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)

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