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PLP1 / Myelin PLP is a transmembrane proteolipid protein that is the predominant component of myelin. The encoded protein 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 Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively splicing results in multiple transcript variants, including the DM20 splice variant.
Gene Name: | proteolipid protein 1 |
Synonyms: | PLP1, HLD1, PMD, Myelin proteolipid protein, Proteolipid protein 1, SPG2, Lipophilin, MMPL, PLP, PLP/DM20 |
Target Sequences: | NM_000533 NP_000524.3 |
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