PLP1, Official Symbol PLP1provided by HGNC Official Full Name proteolipid protein 1provided by HGNC Primary source HGNC:HGNC:9086 See related Ensembl:ENSG00000123560 MIM:300401; AllianceGenome:HGNC:9086 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PLP; PMD; HLD1; MMPL; SPG2; GPM6C; PLP/DM20 Summary 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] Expression Restricted expression toward brain (RPKM 1259.3) See more Orthologs mouse all