Property Summary

NCBI Gene PubMed Count 141
Grant Count 426
R01 Count 240
Funding $60,743,977.89
PubMed Score 366.48
PubTator Score 432.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
psoriasis -2.700 0.000
lung cancer -1.400 0.015
colon cancer -1.500 0.000
ovarian cancer 1.200 0.000

Synonym

Accession P25189 Q16072 Q5VTH4 Q92677 Q9BR67
Symbols P0
CHM
DSS
MPP
CMT1
CMT1B
CMT2I
CMT2J
CMT4E
CMTDI3
CMTDID
HMSNIB

Gene

MPZ

PDB

1N2P   3OAI  

Gene RIF (78)

PMID Text
26406915 interaction with neurofascins impaired by mutations D6Y, D32G, and H52Y responsible for late onset forms of the human disease
26310628 Genotype of MPZ mutations and phenotype of Charcot Marie Tooth Disease are correlated.
26135405 The obtained results depict that the protein with I30T mutation had variable structural conformation and dynamic behavior than native and mutant I30M of MPZ protein.
25720167 As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive.
24819634 2 heterozygous missense mutations were identified among 38 Italian CMT2 patients.
24762602 P0 protein in serum may be an early effective biomarker for peripheral nerve neuropathy
24028194 This study demonistrated that The mutation c.419C>G of MPZ exhibited relatively late onset and slowly progressive CMT1 phenotype.
23743332 This study showed that mutation of MPZ in patient with Charcot-Marie-Tooth disease.
23279346 MPZ-related neuropathy should be considered in the diagnostic work up of patients with painful axonal neuropathy
23197742 report of 2 siblings who presented with early onset severe Charcot-Marie-Tooth disease; a novel heterozygous C to T base substitution at neucleotide position 199 (c.199C>T) was identified in exon 2 of MPZ resulting in substitution of arginine for cysteine at codon 67 (p.Arg67Cys)
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AA Sequence

MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGSRVTLHCSFWSSEWVSDDISFTWRYQP      1 - 70
EGGRDAISIFHYAKGQPYIDEVGTFKERIQWVGDPRWKDGSIVIHNLDYSDNGTFTCDVKNPPDIVGKTS     71 - 140
QVTLYVFEKVPTRYGVVLGAVIGGVLGVVLLLLLLFYVVRYCWLRRQAALQRRLSAMEKGKLHKPGKDAS    141 - 210
KRGRQTPVLYAMLDHSRSTKAVSEKKAKGLGESRKDKK                                    211 - 248
//

Text Mined References (150)

PMID Year Title
26406915 2015 HDAC1/2-Dependent P0 Expression Maintains Paranodal and Nodal Integrity Independently of Myelin Stability through Interactions with Neurofascins.
26310628 2015 Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
26135405 2015 Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.
25720167 2014 A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype.
24819634 2014 Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
24762602 2014 Myelin protein zero and its antibody in serum as biomarkers of n-hexane-induced peripheral neuropathy and neurotoxicity effects.
24028194 2013 Two novel MPZ mutations in Chinese CMT patients.
23743332 2013 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population.
23279346 2012 Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.
23197742 2013 Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation.
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