PLP1

The protein encoded by this gene is a transmembrane proteolipid protein that serves as the predominant component of myelin and functions in the compaction, stabilization, and maintenance of myelin sheaths. Mutations cause Pelizaeus-Merzbacher disease and X-linked spastic paraplegia type 2 through an X-linked recessive inheritance pattern. The gene is highly constrained against loss-of-function variants, and mutations can cause disease through multiple mechanisms depending on the specific variant type.