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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PLP1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5354
Official gene symbolPLP1
Full nameproteolipid protein 1
Aliases,HLD1,MMPL,PLP,PLP/DM20,PMD,SPG2,
Gene summaryThis 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]
LocationChromosome: X   Locus: Xq22
Gene position103031439 - 103047548  Map Viewer
Gene orientationplus
Gene size16110 bp
Gene sequence
OMIM ID300401