Gene Symbol | PLP1 |
Entrez Gene ID | 5354 |
Full Name | proteolipid protein 1 |
Synonyms | GPM6C,HLD1,MMPL,PLP,PLP/DM20,PMD,SPG2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Pelizaeus-Merzbacher disease, 312080 (3); Spastic paraplegia 2, X-linked, 312920 (3) |