Entrez gene ID | | 5354 |
Official gene symbol | | PLP1 |
Full name | | proteolipid protein 1 |
Aliases | | ,HLD1,MMPL,PLP,PLP/DM20,PMD,SPG2, |
Gene summary | | This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It 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 X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xq22 |
Gene position | | 103031439 - 103047548 Map Viewer |
Gene orientation | | plus |
Gene size | | 16110 bp |
Gene sequence |
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OMIM ID | | 300401 |
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