PLP1( Human )

Entrez Gene 5354 Entrez Gene 5354
proteolipid protein 1

Alias

GPM6C|HLD1|MMPL|PLP|PLP/DM20|PMD|SPG2

This gene encodes 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. [provided by RefSeq, Feb 2015].

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