Aliases for PLP1 Gene
External Ids for PLP1 Gene
Previous HGNC Symbols for PLP1 Gene
Previous GeneCards Identifiers for PLP1 Gene
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]
GeneCards Summary for PLP1 Gene
PLP1 (Proteolipid Protein 1) is a Protein Coding gene. Diseases associated with PLP1 include Pelizaeus-Merzbacher Disease and Spastic Paraplegia 2, X-Linked. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Glial Cell Differentiation. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of myelin sheath. An important paralog of this gene is GPM6B.
UniProtKB/Swiss-Prot Summary for PLP1 Gene
This is the major myelin protein from the central nervous system. It plays an important role in the formation or maintenance of the multilamellar structure of myelin.