Relationship to CMT

CMT2 AD, AR 1 subtype 3q25.2

First described 2016

Subtype1

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeCMT2T	Inheritanceautosomal dominant or autosomal recessive	ClassCMT2	OMIM617017	Sentinel Publication Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. 2016 · 10.1002/ana.24612 Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies 2016 · 10.1016/j.ajhg.2016.07.008

ClinVar Variants

Pathogenic and likely pathogenic variants in MME, as classified in ClinVar, are read live from NCBI.

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.

What the review stars mean

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, and one for a single submitter with criteria provided. A record with no criteria provided earns no stars and is not indexed.

Only aggregate germline records are indexed. 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.

View all MME ClinVar Records

Gene Function

MME thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids. Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond. Catalyzes cleavage of bradykinin, substance P and neurotensin peptides. Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9. Involved in the degradation of atrial natriuretic factor (ANF) and brain natriuretic factor (BNP(1-32)). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers Source: UniProt

Indexed Identifiers

HGNC Aliases: CALLA, CD10, NEP

hgnc_idHGNC:7154

ensembl_gene_idENSG00000196549

coords_grch38chr3:155024124-155183813

coords_grch37chr3:154741913-154901497

entrez_id4311

omim_gene120520

uniprot_idsP08473

refseq_accessionNM_000902

mane_refseqNM_007289.4

mane_ensemblENST00000360490.7

External recordsHGNC:7154OMIM 120520gnomADUniProt P08473ClinGenClinVar P/LPOrphanetMANE NM_007289.4GENESIS discovery

EvidenceClinGen Definitive Charcot-Marie-Tooth disease type 2TPanelApp Green

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.