Skip to content
Use your HSA or FSA funds

Gene

MPZ

myelin protein zero

Summary

Cytogenetic location
1q23.3
Coordinates
Chromosome 1: 161,304,735–161,309,968 (GRCh38)
Exons
6 exons across 5.2 kb
Protein
248 amino acids
Also known as
HMSNIB, CMT2I, CMT2J, P0
Previous symbols
CMT1, CMT1B
MANE Select transcript
ENST00000533357.5NM_000530.8
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

        • ClinGen rates the link definitive
        • 4 GenCC submitters rate it definitive or strong
        What knowing changes

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    How MPZ is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    Chromosome 1, with a bracket where MPZ sits. MPZ and 38 genes near it on chromosome 1, from 160,807,352 to 161,807,351.Chromosome 11q23.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44161 Mb161.2 Mb161.4 Mb161.6 Mb161.8 MbLY9: 160,796,071–160,828,601, forward strandLY9CD244: 160,829,075–160,862,904, reverse strandCD244ITLN1: 160,876,539–160,893,012, reverse strandITLN1ITLN2: 160,944,266–160,954,889, reverse strandITLN2F11R: 160,985,714–161,023,123, reverse strand: 160,997,957–161,038,962, reverse strandTSTD1: 161,037,619–161,039,118, reverse strandTSTD1USF1: 161,039,249–161,045,982, reverse strandUSF1ARHGAP30: 161,046,944–161,069,970, reverse strandARHGAP30NECTIN4: 161,070,988–161,090,045, reverse strandKLHDC9: 161,098,343–161,100,346, forward strandKLHDC9PFDN2: 161,100,556–161,118,070, reverse strandPFDN2NIT1: 161,118,082–161,125,812, forward strandNIT1DEDD: 161,120,957–161,133,280, reverse strandDEDDUFC1: 161,152,776–161,159,368, forward strandUFC1USP21: 161,159,450–161,165,723, forward strandUSP21PPOX: 161,165,837–161,178,576, forward strandPPOXB4GALT3: 161,171,304–161,178,652, reverse strandADAMTS4: 161,184,302–161,200,509, reverse strandNDUFS2: 161,197,104–161,214,723, forward strandFCER1G: 161,215,175–161,220,709, forward strandAPOA2: 161,222,290–161,227,266, reverse strandAPOA2TOMM40L: 161,225,939–161,233,755, forward strandTOMM40LNR1I3: 161,228,775–161,238,276, reverse strandNR1I3PCP4L1: 161,258,136–161,285,450, forward strandPCP4L1MPZ: 161,304,735–161,309,968, reverse strandMPZSDHC: 161,314,352–161,363,774, forward strandSDHCCFAP126: 161,364,733–161,367,885, reverse strandCFAP126FCGR2A: 161,505,415–161,524,013, forward strandFCGR2AHSPA6: 161,524,540–161,526,894, forward strandHSPA6FCGR3A: 161,541,738–161,550,968, reverse strandFCGR3A: 161,544,807–161,631,456, reverse strandFCGR2C: 161,581,339–161,605,662, forward strandFCGR2CFCGR3B: 161,623,193–161,631,963, reverse strandFCGR3BFCGR2B: 161,661,958–161,679,490, forward strandFCGR2BFCRLA: 161,706,958–161,714,352, forward strandFCRLAFCRLB: 161,721,544–161,731,801, forward strandFCRLBDUSP12: 161,749,758–161,757,238, forward strandDUSP12ATF6: 161,766,243–161,977,574, forward strandATF6Diagram of MPZ: 6 exons on the reverse strand of chromosome 1Exon 6: 10 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 14 known disease-causing sitesExon 3: 65 known disease-causing sitesExon 2: 40 known disease-causing sitesExon 1: 5 known disease-causing sitesExon 6: 161,304,735–161,305,977, 1,243 basesExon 5: 161,306,108–161,306,168, 61 basesExon 4: 161,306,329–161,306,464, 136 basesExon 3: 161,306,708–161,306,921, 214 basesExon 2: 161,307,258–161,307,424, 167 basesExon 1: 161,309,839–161,309,968, 130 bases6543215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 2 kb of the gene's 5.2 kb; 747 of those bases code for the protein.

    How a genome test reads MPZ

    152

    positions in MPZ where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 5.2 kb of MPZ, introns included, not only the 2 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). MPZ gene: myelin protein zero. Retrieved 16 October 2026, from https://dantelabs.com/genes/mpz

    Vancouver

    Dante Labs. MPZ gene: myelin protein zero [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mpz

    One test. A lifetime of answers.

    From $449Free shipping · Results in 6–8 weeks

    Get my Genome Test