Definition of PLP1

Reviewed on 3/29/2021

PLP1: The gene encoding proteolipid protein, or lipophilin, the primary constituent of myelin. The PLP1 gene is on the X chromosome in band Xq22. Mutations in PLP1 cause Pelizaeus-Merzbacher disease (PMD) and X-linked spastic paraplegia 2 (SPG2).

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