Proteolipid protein 1 (PLP1) is a form of
myelin proteolipid protein (PLP).
Mutations in PLP1 are associated with
Pelizaeus–Merzbacher disease. It is a 4 transmembrane domain protein which is proposed to bind 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 (CNS). 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.[5]
In melanocytic cells PLP1 gene expression may be regulated by
MITF.[6]
Woodward K, Malcolm S (1999). "Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice". Trends Genet. 15 (4): 125–8.
doi:
10.1016/S0168-9525(99)01716-3.
PMID10203813.
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.
PMID1707231.
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.
doi:
10.1515/bchm3.1990.371.2.1175.
PMID1708672.
Popot JL, Pham Dinh D, Dautigny A (1991). "Major Myelin proteolipid: the 4-alpha-helix topology". J. Membr. Biol. 120 (3): 233–46.
doi:
10.1007/BF01868534.
PMID1711121.
S2CID24450880.
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.
doi:
10.1016/0006-291X(87)90580-8.
PMID2441695.
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.
PMID2449536.
S2CID4367384.
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.
PMID2467009.
S2CID33666906.
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.
doi:
10.1007/BF00290964.
PMID3457761.
S2CID35833817.
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.
doi:
10.1016/0005-2736(86)90487-6.
PMID3768366.
Proteolipid protein 1 (PLP1) is a form of
myelin proteolipid protein (PLP).
Mutations in PLP1 are associated with
Pelizaeus–Merzbacher disease. It is a 4 transmembrane domain protein which is proposed to bind 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 (CNS). 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.[5]
In melanocytic cells PLP1 gene expression may be regulated by
MITF.[6]
Woodward K, Malcolm S (1999). "Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice". Trends Genet. 15 (4): 125–8.
doi:
10.1016/S0168-9525(99)01716-3.
PMID10203813.
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.
PMID1707231.
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.
doi:
10.1515/bchm3.1990.371.2.1175.
PMID1708672.
Popot JL, Pham Dinh D, Dautigny A (1991). "Major Myelin proteolipid: the 4-alpha-helix topology". J. Membr. Biol. 120 (3): 233–46.
doi:
10.1007/BF01868534.
PMID1711121.
S2CID24450880.
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.
doi:
10.1016/0006-291X(87)90580-8.
PMID2441695.
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.
PMID2449536.
S2CID4367384.
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.
PMID2467009.
S2CID33666906.
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.
doi:
10.1007/BF00290964.
PMID3457761.
S2CID35833817.
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.
doi:
10.1016/0005-2736(86)90487-6.
PMID3768366.