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FLASH GENE
Symbol MME contributors: mct - updated : 11-10-2016
HGNC name membrane metallo-endopeptidase
HGNC id 7154
ASSOCIATED DISORDERS
corresponding disease(s) CMT2T , SCA43
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in acute lymphoblastic leukemias
constitutional germinal mutation      
truncating mutations causing alloimmunisation during pregnancy and diopathic renal failure in early adulthood (might be caused by immune-mediated fetal nephron loss)
constitutional       gain of function
per se mediates insulin secretory dysfunction
tumoral       loss of function
hypoxia negatively regulates the tumor suppressor function of MME in prostate cancer
tumoral     --low  
in prostate cancer
constitutional       loss of function
reduction in MME and IDE activity is not the primary cause of APP accumulation in Alzheimer disease, but rather a late-stage phenomenon secondary to neurodegeneration
Susceptibility to late-onset Alzheimer's disease
Variant & Polymorphism
Candidate gene for the development of alternative therapies for Alzheimer's disease
Marker
  • tumoral MME expression correlated with aggressive histologic types and higher mitotic activity and is an independent prognostic factor for patients with malignant pleural mesothelioma
  • Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    recombinant brain-targeted neprilysin, ASN12, may be an effective treatment for AD and warrant further investigation in clinical trials
    diabete  
    interventions to inhibit neprilysin may improve beta-cell function in obese humans with type 2 diabetes
    cancerreproductiveprostate
    upregulation of MME may provide a novel therapeutic strategy in prostate cancer
    ANIMAL & CELL MODELS
  • mice deficient in neprilysin showed no obvious degenerative changes in peripheral nerves