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    MPZ myelin protein zero [ Homo sapiens (human) ]

    Gene ID: 4359, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MPZprovided by HGNC
    Official Full Name
    myelin protein zeroprovided by HGNC
    Primary source
    HGNC:HGNC:7225
    See related
    Ensembl:ENSG00000158887 MIM:159440; AllianceGenome:HGNC:7225
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P0; CHM; DSS; MPP; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; HMSNIB
    Summary
    This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]
    Expression
    Broad expression in fat (RPKM 6.2), prostate (RPKM 4.2) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MPZ in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161303600..161309968, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160441004..160447413, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161274525..161279758, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985221 Neighboring gene uncharacterized LOC124904442 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161283747-161284510 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:161286037-161286798 Neighboring gene succinate dehydrogenase complex subunit C Neighboring gene ReSE screen-validated silencer GRCh37_chr1:161326501-161326699 Neighboring gene NANOG hESC enhancer GRCh37_chr1:161334969-161335471 Neighboring gene cilia and flagella associated protein 126

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A novel MPZ gene mutation in congenital neuropathy with hypomyelination. Kochanski A, et al. Neurology, 2004 Jun 8. PMID 15184631
    2. Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine. Hryshchenko NV, et al. Tsitol Genet, 2005 Sep-Oct. PMID 16398147
    3. Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis. Rajabally YA, et al. J Peripher Nerv Syst, 2005 Dec. PMID 16279991
    4. Marked phenotypic variation in a family with a new myelin protein zero mutation. Szabo A, et al. Neuromuscul Disord, 2005 Nov. PMID 16198109
    5. Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation. Lee YC, et al. J Neurol, 2005 Feb. PMID 15729519

    See all (171) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The cytoplasmic tail of myelin protein zero induces morphological changes in lipid membranes.
      Title: The cytoplasmic tail of myelin protein zero induces morphological changes in lipid membranes.
    2. Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
      Title: Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
    3. Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
      Title: Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
    4. Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
      Title: Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
    5. Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.
      Title: Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report.
    6. Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
      Title: Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
    7. MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.
      Title: MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.
    8. Loss of function MPZ mutation causes milder CMT1B neuropathy.
      Title: Loss of function MPZ mutation causes milder CMT1B neuropathy.
    9. Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
      Title: Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
    10. Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
      Title: Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
    Submit: New GeneRIF Correction See all GeneRIFs (95)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease dominant intermediate D
    MedGen: C1843075 OMIM: 607791 GeneReviews: Not available
    		Compare labs
    Charcot-Marie-Tooth disease type 1B
    MedGen: C0270912 OMIM: 118200 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview
    		Compare labs
    Charcot-Marie-Tooth disease type 2I
    MedGen: C3888087 OMIM: 607677 GeneReviews: Not available
    		Compare labs
    Charcot-Marie-Tooth disease type 2J
    MedGen: C1843153 OMIM: 607736 GeneReviews: Not available
    		Compare labs
    Dejerine-Sottas disease
    MedGen: C0011195 OMIM: 145900 GeneReviews: Not available
    		Compare labs
    Neuropathy, congenital hypomyelinating, 2
    MedGen: C4722277 OMIM: 618184 GeneReviews: Not available
    		Compare labs
    Roussy-Levy syndrome
    MedGen: C0205713 OMIM: 180800 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural molecule activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell aggregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell-cell adhesion via plasma-membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion via plasma-membrane adhesion molecules IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in myelination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in myelination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in myelin sheath IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myelin protein P0
    Names
    Charcot-Marie-Tooth neuropathy 1B
    myelin peripheral protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008055.1 RefSeqGene

      Range
      5001..10238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_256

    mRNA and Protein(s)

    1. NM_000530.8 → NP_000521.2  myelin protein P0 isoform MPZ precursor

      See identical proteins and their annotated locations for NP_000521.2

      Status: REVIEWED

      Description
      Transcript Variant: This transcript (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (MPZ, also known as P0) results from translation termination at the upstream UAG stop codon, while the longer isoform (L-MPZ) results from UAG stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the shorter isoform (MPZ).
      Source sequence(s)
      BM663255, CD172418, D10537, DB210759
      Consensus CDS
      CCDS1229.2
      UniProtKB/Swiss-Prot
      P25189, Q16072, Q5VTH4, Q92677, Q9BR67
      UniProtKB/TrEMBL
      A0A0J9YWT2
      Related
      ENSP00000432943.1, ENST00000533357.5
      Conserved Domains (2) summary
      cd05879
      Location:31 → 146
      Ig_P0; Immunoglobulin (Ig)-like domain of Protein zero (P0)
      pfam10570
      Location:184 → 248
      Myelin-PO_C; Myelin-PO cytoplasmic C-term p65 binding region

    2. NM_001315491.2 → NP_001302420.1  myelin protein P0 isoform L-MPZ precursor

      Status: REVIEWED

      Description
      Transcript Variant: This transcript (1) encodes two isoforms, which result from the use of alternative in-frame translation termination codons. The shorter isoform (MPZ, also known as P0) results from translation termination at the upstream UAG stop codon, while the longer isoform (L-MPZ) results from UAG stop codon readthrough to the downstream UGA termination codon. This RefSeq represents the longer, C-terminally extended isoform (L-MPZ). As the UAG stop codon has been reported to specify several alternative amino acids (glutamine, tyrosine and leucine), its location in the longer isoform is denoted by an 'X'.
      Source sequence(s)
      BM663255, CD172418, D10537, DB210759
      Consensus CDS
      CCDS91087.1
      UniProtKB/TrEMBL
      A0A5F9ZI26
      Related
      ENSP00000500814.2, ENST00000672602.2
      Conserved Domains (3) summary
      cd05879
      Location:31 → 146
      Ig_P0; Immunoglobulin (Ig)-like domain of Protein zero (P0)
      smart00410
      Location:36 → 146
      IG_like; Immunoglobulin like
      pfam10570
      Location:184 → 248
      Myelin-PO_C; Myelin-PO cytoplasmic C-term p65 binding region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      161303600..161309968 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001321.3 → XP_016856810.1  myelin protein P0 isoform X1

      UniProtKB/TrEMBL
      Q14902

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      160441004..160447413 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336676.1 → XP_054192651.1  myelin protein P0 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P25189.1 GenPept UniProtKB/Swiss-Prot:P25189

    Gene LinkOut

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