Proteolipid protein 1
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| Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)
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| Identifiers | ||||||||||||||
| Symbol(s) | PLP1; MMPL; PLP; PLP/DM20; PMD; SPG2 | |||||||||||||
| External IDs | OMIM: 300401 MGI: 97623 Homologene: 448 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 5354 | 18823 | ||||||||||||
| Ensembl | ENSG00000123560 | ENSMUSG00000031425 | ||||||||||||
| Uniprot | P60201 | Q3UYM8 | ||||||||||||
| Refseq | NM_000533 (mRNA) NP_000524 (protein) | NM_011123 (mRNA) NP_035253 (protein) | ||||||||||||
| Location | Chr X: 102.92 - 102.93 Mb | Chr X: 132.17 - 132.18 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
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]
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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
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
