CMT1B

Chr 1AD

myelin protein zero

Also known as: CHM, CHN2, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3

NCBI Gene: 4359

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]

Primary Disease Associations & Inheritance

Charcot-Marie-Tooth disease, type 1BMIM #118200
AD
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CMT1B
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CMT1B?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CMT1B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

MPZ-related neuropathy, congenital hypomyelinating

definitive
ADUndeterminedUncertain
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Charcot-Marie-Tooth disease, type 1B

MIM #118200

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Hereditary neuropathy.
Pisciotta C et al.·Handb Clin Neurol
2023Review
Inherited peripheral neuropathy.
Keller MP et al.·Semin Neurol
1999Review
CIDP, CMT1B, or CMT1B plus CIDP?
Cardellini D et al.·Neurol Sci
2021Case report
Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease.
Pisciotta C et al.·Neuromuscul Disord
2023Review
Phenotypic clustering in MPZ mutations.
Shy ME et al.·Brain
2004Review
Molecular basis of hereditary neuropathies.
Chance PF·Phys Med Rehabil Clin N Am
2001Review
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
Bertini A et al.·J Neurol Neurosurg Psychiatry
2024Cohort
Inherited neuropathies: from gene to disease.
Keller MP et al.·Brain Pathol
1999Review
Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF·Suppl Clin Neurophysiol
2004Review
Schwann Cell and the Pathogenesis of Charcot-Marie-Tooth Disease.
Murakami T et al.·Adv Exp Med Biol
2019Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools