Medical Definition of PLP1

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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).

Reviewed on 12/21/2018

Health Solutions From Our Sponsors