Proteolipid protein 1
| Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) | |||||||||||
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| Symbols | PLP1 ; MMPL; PLP; PLP/DM20; PMD; SPG2 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 448 | ||||||||||
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| File:PBB GE PLP1 210198 s at tn.png | |||||||||||
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| Species | Human | Mouse | |||||||||
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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. Two transcript variants encoding distinct isoforms have been identified for this gene.[1]
See also
References
Further reading
- Woodward K, Malcolm S (1999). "Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice". Trends Genet. 15 (4): 125–8. PMID 10203813.
- Garbern J, Cambi F, Shy M, Kamholz J (1999). "The molecular pathogenesis of Pelizaeus-Merzbacher disease". Arch. Neurol. 56 (10): 1210–4. PMID 10520936.
- Yool DA, Edgar JM, Montague P, Malcolm S (2000). "The proteolipid protein gene and myelin disorders in man and animal models". Hum. Mol. Genet. 9 (6): 987–92. PMID 10767322.
- Hudson LD (2003). "Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene". J. Child Neurol. 18 (9): 616–24. PMID 14572140.
- Inoue K (2005). "PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2". Neurogenetics. 6 (1): 1–16. doi:10.1007/s10048-004-0207-y. PMID 15627202.
- Doll R, Natowicz MR, Schiffmann R, Smith FI (1992). "Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease". Am. J. Hum. Genet. 51 (1): 161–9. PMID 1376966.
- Strautnieks S, Rutland P, Winter RM; et al. (1992). "Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis". Am. J. Hum. Genet. 51 (4): 871–8. PMID 1384324.
- Pratt VM, Trofatter JA, Schinzel A; et al. (1991). "A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease". Am. J. Med. Genet. 38 (1): 136–9. doi:10.1002/ajmg.1320380129. PMID 1707231.
- Weimbs T, Dick T, Stoffel W, Boltshauser E (1991). "A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis". Biol. Chem. Hoppe-Seyler. 371 (12): 1175–83. PMID 1708672.
- Popot JL, Pham Dinh D, Dautigny A (1991). "Major Myelin proteolipid: the 4-alpha-helix topology". J. Membr. Biol. 120 (3): 233–46. PMID 1711121.
- Pham-Dinh D, Popot JL, Boespflug-Tanguy O; et al. (1991). "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 (17): 7562–6. PMID 1715570.
- Simons R, Alon N, Riordan JR (1987). "Human myelin DM-20 proteolipid protein deletion defined by cDNA sequence". Biochem. Biophys. Res. Commun. 146 (2): 666–71. PMID 2441695.
- Kronquist KE, Crandall BF, Macklin WB, Campagnoni AT (1988). "Expression of myelin proteins in the developing human spinal cord: cloning and sequencing of human proteolipid protein cDNA". J. Neurosci. Res. 18 (3): 395–401. doi:10.1002/jnr.490180303. PMID 2449536.
- Edwards AM, Ross NW, Ulmer JB, Braun PE (1989). "Interaction of myelin basic protein and proteolipid protein". J. Neurosci. Res. 22 (1): 97–102. doi:10.1002/jnr.490220113. PMID 2467009.
- Hudson LD, Puckett C, Berndt J; et al. (1989). "Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder". Proc. Natl. Acad. Sci. U.S.A. 86 (20): 8128–31. PMID 2479017.
- Trofatter JA, Dlouhy SR, DeMyer W; et al. (1990). "Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant". Proc. Natl. Acad. Sci. U.S.A. 86 (23): 9427–30. PMID 2480601.
- Gencic S, Abuelo D, Ambler M, Hudson LD (1989). "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 (3): 435–42. PMID 2773936.
- Mattei MG, Alliel PM, Dautigny A; et al. (1986). "The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome". Hum. Genet. 72 (4): 352–3. PMID 3457761.
- Diehl HJ, Schaich M, Budzinski RM, Stoffel W (1987). "Individual exons encode the integral membrane domains of human myelin proteolipid protein". Proc. Natl. Acad. Sci. U.S.A. 83 (24): 9807–11. PMID 3467339.
- Kahan I, Moscarello MA (1986). "The intramembranous domains of lipophilin in phosphatidylcholine vesicles are similar to those in the myelin membrane". Biochim. Biophys. Acta. 862 (1): 223–6. PMID 3768366.
External links
- PLP1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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