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SPG2

Chr XXLR

proteolipid protein 1

Also known as: GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2

NCBI Gene: 5354 UniProt: Q9Y252 OMIM: 312920

This gene encodes proteolipid protein 1, a transmembrane protein that is the predominant component of myelin and functions in myelin compaction, stabilization, and maintenance. Mutations cause X-linked spastic paraplegia type 2, which primarily affects the central nervous system with spasticity and weakness. The condition follows X-linked recessive inheritance, typically affecting males more severely than females.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismXLR1 OMIM phenotype

Clinical Summary— SPG2

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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GeneReview available — SPG2

Authoritative clinical overview · Recommended first read

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