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Proteolipid Protein 1, Myelin (PLP1)

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

Proteolipid Protein 1, Myelin (PLP1)
CCC A417
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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA417Hu01 Recombinant Proteolipid Protein 1, Myelin (PLP1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA417Hu01 Polyclonal Antibody to Proteolipid Protein 1, Myelin (PLP1) WB; IHC; ICC; IP.
MAA417Hu21 Monoclonal Antibody to Proteolipid Protein 1, Myelin (PLP1) WB; IHC; ICC; IP.
Assay Kits SEA417Hu ELISA Kit for Proteolipid Protein 1, Myelin (PLP1) Enzyme-linked immunosorbent assay for Antigen Detection.
AEA417Hu ELISA Kit for Anti-Proteolipid Protein 1, Myelin Antibody (Anti-PLP1) Enzyme-linked immunosorbent assay for Antibody Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Proteolipid Protein 1, Myelin (PLP1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Proteolipid Protein 1, Myelin (PLP1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Proteolipid Protein 1, Myelin (PLP1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Proteolipid Protein 1, Myelin (PLP1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Proteolipid Protein 1, Myelin (PLP1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Proteolipid Protein 1, Myelin (PLP1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Proteolipid Protein 1, Myelin (PLP1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Proteolipid Protein 1, Myelin (PLP1) Polyclonal Antibody Customized Service Offer
Assay Kits SEA417Ra ELISA Kit for Proteolipid Protein 1, Myelin (PLP1) Enzyme-linked immunosorbent assay for Antigen Detection.
  1. "Individual exons encode the integral membrane domains of human myelin proteolipid protein."Proc. Natl. Acad. Sci. U.S.A. 83:9807-9811(1986) [PubMed] [Europe PMC] [Abstract]
  2. "Human myelin DM-20 proteolipid protein deletion defined by cDNA sequence."Biochem. Biophys. Res. Commun. 146:666-671(1987) [PubMed] [Europe PMC] [Abstract]
  3. "Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder."Proc. Natl. Acad. Sci. U.S.A. 86:8128-8131(1989) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Amino-acid sequence of human and bovine brain myelin proteolipid protein (lipophilin) is completely conserved."Biol. Chem. Hoppe-Seyler 366:627-635(1985) [PubMed] [Europe PMC] [Abstract]
  7. "Expression of myelin proteins in the developing human spinal cord: cloning and sequencing of human proteolipid protein cDNA."J. Neurosci. Res. 18:395-401(1987) [PubMed] [Europe PMC] [Abstract]
  8. "Major myelin proteolipid: the 4-alpha-helix topology."J. Membr. Biol. 120:233-246(1991) [PubMed] [Europe PMC] [Abstract]
  9. "Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein."Am. J. Hum. Genet. 45:435-442(1989) [PubMed] [Europe PMC] [Abstract]
  10. "Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant."Proc. Natl. Acad. Sci. U.S.A. 86:9427-9430(1989) [PubMed] [Europe PMC] [Abstract]
  11. "A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis."Biol. Chem. Hoppe-Seyler 371:1175-1183(1990) [PubMed] [Europe PMC] [Abstract]
  12. "A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease."Am. J. Med. Genet. 38:136-139(1991) [PubMed] [Europe PMC] [Abstract]
  13. "Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid."Proc. Natl. Acad. Sci. U.S.A. 88:7562-7566(1991) [PubMed] [Europe PMC] [Abstract]
  14. "Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease."Am. J. Hum. Genet. 51:161-169(1992) [PubMed] [Europe PMC] [Abstract]
  15. "Pelizaeus-Merzbacher disease: detection of mutations Thr181-->Pro and Leu223-->Pro in the proteolipid protein gene, and prenatal diagnosis."Am. J. Hum. Genet. 51:871-878(1992) [PubMed] [Europe PMC] [Abstract]
  16. "Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred."Am. J. Hum. Genet. 52:1053-1056(1993) [PubMed] [Europe PMC] [Abstract]
  17. "A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease."Biol. Chem. Hoppe-Seyler 374:75-83(1993) [PubMed] [Europe PMC] [Abstract]
  18. "A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family."Hum. Mol. Genet. 2:19-22(1993) [PubMed] [Europe PMC] [Abstract]
  19. "Comparison of statistics for candidate-gene association studies using cases and parents."Am. J. Hum. Genet. 55:402-409(1994) [PubMed] [Europe PMC] [Abstract]
  20. "X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus."Nat. Genet. 6:257-262(1994) [PubMed] [Europe PMC] [Abstract]
  21. "The rumpshaker mutation in spastic paraplegia."Nat. Genet. 7:351-352(1994) [PubMed] [Europe PMC] [Abstract]
  22. "In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease."Am. J. Med. Genet. 55:405-407(1995) [PubMed] [Europe PMC] [Abstract]
  23. "Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus."Am. J. Med. Genet. 58:70-73(1995) [PubMed] [Europe PMC] [Abstract]
  24. "Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene."Clin. Genet. 47:99-100(1995) [PubMed] [Europe PMC] [Abstract]
  25. "A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease."Neurology 45:394-395(1995) [PubMed] [Europe PMC] [Abstract]
  26. "A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia."Hum. Mutat. 8:384-385(1996) [PubMed] [Europe PMC] [Abstract]
  27. "Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia."Neurology 46:1112-1117(1996) [PubMed] [Europe PMC] [Abstract]
  28. "Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease."Neurology 47:1333-1335(1996) [PubMed] [Europe PMC] [Abstract]
  29. "A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease."Hum. Mutat. 9:475-476(1997) [PubMed] [Europe PMC] [Abstract]
  30. "Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease."Neurology 48:283-285(1997) [PubMed] [Europe PMC] [Abstract]
  31. "Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease."Am. J. Med. Genet. 75:439-440(1998) [PubMed] [Europe PMC] [Abstract]
  32. "X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)."Am. J. Med. Genet. 75:516-517(1998) [PubMed] [Europe PMC] [Abstract]
  33. "A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease."Clin. Genet. 54:248-249(1998) [PubMed] [Europe PMC] [Abstract]
  34. "Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein 'PLP' gene."J. Hum. Genet. 43:206-208(1998) [PubMed] [Europe PMC] [Abstract]
  35. "Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease."Neurology 50:1749-1754(1998) [PubMed] [Europe PMC] [Abstract]
  36. "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]
  37. "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)."Am. J. Med. Genet. 82:132-139(1999) [PubMed] [Europe PMC] [Abstract]
  38. "Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity."Ann. Neurol. 45:59-64(1999) [PubMed] [Europe PMC] [Abstract]
  39. "Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members."Ann. Neurol. 45:680-683(1999) [PubMed] [Europe PMC] [Abstract]
  40. "A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease."Hum. Mutat. 14:182-182(1999) [PubMed] [Europe PMC] [Abstract]
  41. "Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations." Eur. J. Hum. Genet. 8:837-845(2000) [PubMed] [Europe PMC] [Abstract]
  42. "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."Int. J. Mol. Med. 9:125-129(2002) [PubMed] [Europe PMC] [Abstract]
  43. "A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene."J. Neurol. Sci. 224:83-87(2004) [PubMed] [Europe PMC] [Abstract]
  44. "Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease."Hum. Mutat. 25:321-322(2005) [PubMed] [Europe PMC] [Abstract]
  45. "Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation."Neurology 68:1305-1307(2007) [PubMed] [Europe PMC] [Abstract]
  46. "A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2."Gene 533:447-450(2014) [PubMed] [Europe PMC] [Abstract]