Proteolipid Protein 1, Myelin (PLP1)

MMPL; PLP/DM20; PMD; SPG2; Pelizaeus-Merzbacher Disease; Spastic Paraplegia 2,Uncomplicated; Myelin proteolipid protein; Lipophilin

SPN	W388
HGNC	9086
MGI	97623
PubMed	18470932
RGD	3354
UniProt	P60201
Wiki	PLP1

Proteolipid protein 1 is a protein associated with Pelizaeus-Merzbacher disease. It is a 4 transmembrane domain protein which binds strongly to other copies of itself on the extracellular side of the membrane. In a myelin sheath, as the layers of myelin wraps come together, PLP will bind itself and tightly hold the cellular membranes together.This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. The encoded protein functions in myelination. This protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations associated with this gene cause X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

Reference

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"Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus."
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"Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene."
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"A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease."
Neurology 45:394-395(1995) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia."
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"Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia."
Neurology 46:1112-1117(1996) [PubMed] [Europe PMC] [Abstract]

"Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease."
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"A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease."
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"A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease."
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"Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein 'PLP' gene."
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"Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease."
Neurology 50:1749-1754(1998) [PubMed] [Europe PMC] [Abstract]

"Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not."
Am. J. Hum. Genet. 65:360-369(1999) [PubMed] [Europe PMC] [Abstract]

"Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)."
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"A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease."
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"Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations."
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"A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene."
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"A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene."
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"Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease."
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"Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation."
Neurology 68:1305-1307(2007) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2."
Gene 533:447-450(2014) [PubMed] [Europe PMC] [Abstract]