Property Summary

NCBI Gene PubMed Count 150
Grant Count 306
R01 Count 207
Funding $52,418,660.01
PubMed Score 1391.19
PubTator Score 721.48

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P60201 P04400 P06905 Q502Y1 Q6FHZ6 PLP
Symbols PLP
PMD
HLD1
MMPL
SPG2
GPM6C
PLP/DM20

Gene

PANTHER Protein Class (2)

PDB

2XPG  

Gene RIF (63)

PMID Text
26329556 Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
26311781 Myelin proteolipid protein is critical to regulating oligodendrocyte progenitor cell migration.
25930075 In major depressive disorder there was a significantly reduced expression of PLP1 mRNA.
25749076 Study investigated 17 unrelated Pelizaeus-Merzbacher disease subjects with copy number gains at the PLP1 locus including triplication and quadruplication of specific genomic intervals-16/17 were found to have a duplication-inverted triplication-duplication rearrangement product.
25491635 Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease. We identified PLP1 mutations in seven male patients with PMD.
24890387 Data strongly suggest that a secondary structure within intron 3 is important for controlling regulation of the PLP1 alternative splice and that patient mutations can cause Pelizaeus-Merzbacher disease by disrupting this structure.
24857611 Data suggest transmembrane segment of PLP contains multiple helix-helix interaction motifs that play role in ability of PLP to form dimers/oligomers; alteration of local hydrophobicity affects both helix-helix interaction and segment alpha-helicity.
24519770 Our clinical and molecular findings showed that the phenotypic spectrum resulting from PLP1 mutations seems to be broader in patients with the PLP1 gene duplication compared to patients with both nonsense and missense mutation.
24103481 report a novel PLP1 missense mutation (c.88G>C) in a family from Argentina. This mutation is in a highly conserved transmembrane domain of PLP1 and the mutant protein was found to be retained in the endoplasmic reticulum when expressed in vitro
24019930 show that the presence of the c.436C>G mutation served to introduce regulatory motifs that appear to be responsible for the perturbed splicing pattern that led to loss of the major PLP transcript
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AA Sequence

MGLLECCARCLVGAPFASLVATGLCFFGVALFCGCGHEALTGTEKLIETYFSKNYQDYEYLINVIHAFQY      1 - 70
VIYGTASFFFLYGALLLAEGFYTTGAVRQIFGDYKTTICGKGLSATVTGGQKGRGSRGQHQAHSLERVCH     71 - 140
CLGKWLGHPDKFVGITYALTVVWLLVFACSAVPVYIYFNTWTTCQSIAFPSKTSASIGSLCADARMYGVL    141 - 210
PWNAFPGKVCGSNLLSICKTAEFQMTFHLFIAAFVGAAATLVSLLTFMIAATYNFAVLKLMGRGTKF       211 - 277
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Text Mined References (148)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26329556 2015 Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
26311781 2015 Myelin Proteolipid Protein Complexes with ?v Integrin and AMPA Receptors In Vivo and Regulates AMPA-Dependent Oligodendrocyte Progenitor Cell Migration through the Modulation of Cell-Surface GluR2 Expression.
25930075 2015 Oligodendrocyte morphometry and expression of myelin - Related mRNA in ventral prefrontal white matter in major depressive disorder.
25749076 2015 Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
25491635 2015 Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.
25416956 2014 A proteome-scale map of the human interactome network.
24890387 2014 PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
24857611 2014 Terminal residue hydrophobicity modulates transmembrane helix-helix interactions.
24519770 The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
More...