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proteolipid protein

Friday 21 November 2003

The two proteins, proteolipid protein and DM20, which are encoded by alternative transcripts from the proteolipid protein (PLP) gene, are major components of central nervous system myelin.


- mutations in Pelizaeus-Merzbacher disease (PMD)
- mutations in X-linked dysmyelinating neuropathy

The mutations found are very varied, ranging from deletions, loss-of-function and missense mutations to additional copies of the gene.


- Yool DA, Edgar JM, Montague P, Malcolm S. The proteolipid protein gene and myelin disorders in man and animal models. Hum Mol Genet. 2000 Apr 12;9(6):987-92. PMID: 10767322

- Woodward K, Malcolm S. Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice. Trends Genet. 1999 Apr;15(4):125-8. PMID: 10203813