Gene Function

Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction Source: UniProt

Relationship to CMT

CMT1CMT2CMTDI AD
4 subtypes
1q23.3

First described 1993

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeCMT1B	Inheritanceautosomal dominant	ClassCMT1	OMIM118200	Sentinel Publication Charcot-Marie-Tooth neuropathy type 1B is Associated with Mutations of the Myelin P0 Gene 1993 · 10.1038/ng0993-31
SubtypeCMT2I	Inheritanceautosomal dominant	ClassCMT2	OMIM607677	Sentinel Publication Charcot-Marie-Tooth Disease Type 2 Associated with Mutation of the Myelin Protein Zero Gene 1998 · 10.1212/wnl.50.5.1397
SubtypeCMTDID	Inheritanceautosomal dominant	ClassCMTDI	OMIM607791	Sentinel Publication Novel Mutation in the Myelin Protein Zero Gene in a Family with Intermediate Hereditary Motor and Sensory Neuropathy 1999 · 10.1136/jnnp.67.2.174
SubtypeCMT2J	Inheritanceautosomal dominant	ClassCMT2	OMIM607736	Sentinel Publication An Axonal Form of Charcot-Marie-Tooth Disease Showing Distinctive Features in Association with Mutations in the Peripheral Myelin Protein Zero Gene (Thr124Met or Asp75Val) 2000 · 10.1136/jnnp.69.6.806

Stored Identifiers

HGNC Aliases: P₀

hgnc_idHGNC:7225

ensembl_gene_idENSG00000158887

coords_grch38chr1:161304735-161309974

coords_grch37chr1:161274525-161279762

entrez_id4359

omim_gene159440

uniprot_idsP25189

refseq_accessionNM_000530

mane_refseqNM_000530.8

mane_ensemblENST00000533357.5

External recordsHGNC:7225OMIM 159440gnomADUniProt P25189ClinGenClinVar P/LPOrphanetMANE NM_000530.8

EvidenceClinGen Definitive Charcot-Marie-Tooth diseasePanelApp GreenClinGen dosage HI 2 · Emerging evidence · TS 1 · Little evidence

ClinVar Variants

Pathogenic and likely pathogenic variants in MPZ, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, one for a single submitter with criteria provided, and none where no criteria were provided.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

The Dorsal Root

A Name That Does Too Much Work

Jean-Martin Charcot's name appears throughout medicine, but nowhere does it create more confusion than in the foot. Learn why the CMT foot and Charcot neuroarthropathy, also known as Charcot foot, share a name yet differ in how they develop, appear, and are managed.

When Medicine Lost Its Compass

Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.

Error 404: Gene Not Found

CMT genetic testing often fails to identify the cause of the disease, even when comprehensive panels are used. Here, we discuss why this happens, what genetic tests can and cannot do, and why a negative result still matters.