MME Gene (Membrane Metalloendopeptidase)

CD10, Neprilysin, Neutral Endopeptidase

Gene Information Card

Symbol MME
Full Name Membrane Metalloendopeptidase
Gene Type Protein coding
Chromosomal Location 3q25.2
NCBI Gene ID 4311 ncbi.nlm.nih.gov/gene/4311
Ensembl ID ENSG00000196549
UniProt ID P08473
OMIM ID 120520
HGNC ID 7154
Aliases CD10, CALLA, NEP, SFE, gp100

Description

The MME gene encodes a type II transmembrane zinc-dependent metalloprotease known as neprilysin (CD10). It cleaves various bioactive peptides, including enkephalins, substance P, endothelin, and amyloid beta peptide. Neprilysin is expressed on the surface of many cell types and plays a critical role in peptide hormone regulation, pain modulation, and blood pressure control. It is also a well-known marker for acute lymphoblastic leukemia (CALLA antigen).

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Alzheimer disease Neprilysin degrades amyloid beta peptide; reduced activity leads to amyloid plaque accumulation PMID: 15339662
Acute lymphoblastic leukemia CD10 (CALLA) is a diagnostic marker; MME expression is characteristic of precursor B-cell ALL PMID: 2687500
Hereditary sensory neuropathy type IE Missense mutations in MME cause loss of neprilysin activity, leading to neurodegeneration PMID: 26991897
Essential hypertension Neprilysin degrades vasoactive peptides; MME polymorphisms associated with blood pressure regulation PMID: 10471492

Expression Profile

Tissue Expression
Tissue nTPM level
Kidney 68.5 High
Small intestine 42.3 High
Lung 28.1 Medium
Brain 15.2 Medium
Liver 2.1 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 45.0 High expression
K-562 12.3 Moderate expression
HeLa 3.5 Low expression
SH-SY5Y 8.9 Moderate expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1118C>T (p.Thr373Ile) Missense Rare Loss of catalytic activity; associated with hereditary sensory neuropathy
c.1579G>A (p.Val527Met) Missense Rare Reduced neprilysin activity; linked to Alzheimer risk
c.2041C>T (p.Arg681*), Nonsense Very rare Truncated protein; loss of function
Mutation functional classification

Loss of Function (LOF)

Missense and nonsense mutations that reduce or abolish neprilysin enzymatic activity, leading to impaired peptide degradation.

Gain of Function (GOF)

Not reported for MME.

Dominant Negative (DN)

Not reported for MME.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/4311
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MME

Gene Ontology (GO)

• metalloendopeptidase activity (GO:0004222) • proteolysis (GO:0006508)
• plasma membrane (GO:0005886) • metallopeptidase activity (GO:0008237)
• neuronal cell body (GO:0043025) • zinc ion binding (GO:0008270)

Pathways

• Amyloid beta metabolism (Reactome: R-HSA-977225)
• Peptide hormone metabolism (Reactome: R-HSA-422085)
• Endothelin degradation (Reactome: R-HSA-2022377)

Protein Summary

Neprilysin (CD10) is a 749-amino acid zinc metalloprotease anchored to the plasma membrane. It has a short N-terminal cytoplasmic domain, a transmembrane helix, and a large extracellular catalytic domain. The enzyme cleaves peptides at the amino side of hydrophobic residues, regulating signaling peptides such as enkephalins, substance P, bradykinin, and amyloid beta. It is a key drug target for heart failure (sacubitril) and is implicated in Alzheimer disease and cancer.

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Displaying Records 1 To 15 Of 16 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/4311
OMIM https://www.omim.org/entry/120520
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7154
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196549
UniProt https://www.uniprot.org/uniprot/P08473
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=MME%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=MME
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