Proteolipid protein 1

Proteolipid protein 1

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.

PBB_Summary
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summary_text = 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. [cite web | title = Entrez Gene: PLP1 proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5354| accessdate = ]

ee also

* Myelin

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Woodward K, Malcolm S |title=Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice. |journal=Trends Genet. |volume=15 |issue= 4 |pages= 125–8 |year= 1999 |pmid= 10203813 |doi=
*cite journal | author=Garbern J, Cambi F, Shy M, Kamholz J |title=The molecular pathogenesis of Pelizaeus-Merzbacher disease. |journal=Arch. Neurol. |volume=56 |issue= 10 |pages= 1210–4 |year= 1999 |pmid= 10520936 |doi=
*cite journal | author=Yool DA, Edgar JM, Montague P, Malcolm S |title=The proteolipid protein gene and myelin disorders in man and animal models. |journal=Hum. Mol. Genet. |volume=9 |issue= 6 |pages= 987–92 |year= 2000 |pmid= 10767322 |doi=
*cite journal | author=Hudson LD |title=Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. |journal=J. Child Neurol. |volume=18 |issue= 9 |pages= 616–24 |year= 2003 |pmid= 14572140 |doi=
*cite journal | author=Inoue K |title=PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. |journal=Neurogenetics |volume=6 |issue= 1 |pages= 1–16 |year= 2005 |pmid= 15627202 |doi= 10.1007/s10048-004-0207-y
*cite journal | author=Doll R, Natowicz MR, Schiffmann R, Smith FI |title=Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. |journal=Am. J. Hum. Genet. |volume=51 |issue= 1 |pages= 161–9 |year= 1992 |pmid= 1376966 |doi=
*cite journal | author=Strautnieks S, Rutland P, Winter RM, "et al." |title=Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis. |journal=Am. J. Hum. Genet. |volume=51 |issue= 4 |pages= 871–8 |year= 1992 |pmid= 1384324 |doi=
*cite journal | author=Pratt VM, Trofatter JA, Schinzel A, "et al." |title=A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. |journal=Am. J. Med. Genet. |volume=38 |issue= 1 |pages= 136–9 |year= 1991 |pmid= 1707231 |doi= 10.1002/ajmg.1320380129
*cite journal | author=Weimbs T, Dick T, Stoffel W, Boltshauser E |title=A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis. |journal=Biol. Chem. Hoppe-Seyler |volume=371 |issue= 12 |pages= 1175–83 |year= 1991 |pmid= 1708672 |doi=
*cite journal | author=Popot JL, Pham Dinh D, Dautigny A |title=Major Myelin proteolipid: the 4-alpha-helix topology. |journal=J. Membr. Biol. |volume=120 |issue= 3 |pages= 233–46 |year= 1991 |pmid= 1711121 |doi=
*cite journal | author=Pham-Dinh D, Popot JL, Boespflug-Tanguy O, "et al." |title=Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 17 |pages= 7562–6 |year= 1991 |pmid= 1715570 |doi=
*cite journal | author=Simons R, Alon N, Riordan JR |title=Human myelin DM-20 proteolipid protein deletion defined by cDNA sequence. |journal=Biochem. Biophys. Res. Commun. |volume=146 |issue= 2 |pages= 666–71 |year= 1987 |pmid= 2441695 |doi=
*cite journal | author=Kronquist KE, Crandall BF, Macklin WB, Campagnoni AT |title=Expression of myelin proteins in the developing human spinal cord: cloning and sequencing of human proteolipid protein cDNA. |journal=J. Neurosci. Res. |volume=18 |issue= 3 |pages= 395–401 |year= 1988 |pmid= 2449536 |doi= 10.1002/jnr.490180303
*cite journal | author=Edwards AM, Ross NW, Ulmer JB, Braun PE |title=Interaction of myelin basic protein and proteolipid protein. |journal=J. Neurosci. Res. |volume=22 |issue= 1 |pages= 97–102 |year= 1989 |pmid= 2467009 |doi= 10.1002/jnr.490220113
*cite journal | author=Hudson LD, Puckett C, Berndt J, "et al." |title=Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 20 |pages= 8128–31 |year= 1989 |pmid= 2479017 |doi=
*cite journal | author=Trofatter JA, Dlouhy SR, DeMyer W, "et al." |title=Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 23 |pages= 9427–30 |year= 1990 |pmid= 2480601 |doi=
*cite journal | author=Gencic S, Abuelo D, Ambler M, Hudson LD |title=Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. |journal=Am. J. Hum. Genet. |volume=45 |issue= 3 |pages= 435–42 |year= 1989 |pmid= 2773936 |doi=
*cite journal | author=Mattei MG, Alliel PM, Dautigny A, "et al." |title=The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome. |journal=Hum. Genet. |volume=72 |issue= 4 |pages= 352–3 |year= 1986 |pmid= 3457761 |doi=
*cite journal | author=Diehl HJ, Schaich M, Budzinski RM, Stoffel W |title=Individual exons encode the integral membrane domains of human myelin proteolipid protein. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=83 |issue= 24 |pages= 9807–11 |year= 1987 |pmid= 3467339 |doi=
*cite journal | author=Kahan I, Moscarello MA |title=The intramembranous domains of lipophilin in phosphatidylcholine vesicles are similar to those in the myelin membrane. |journal=Biochim. Biophys. Acta |volume=862 |issue= 1 |pages= 223–6 |year= 1986 |pmid= 3768366 |doi=

External links

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