AlphaFold predicted structure
MME · P08473
Mean pLDDT
96.2/ 100
Very high
750 residues
Confidence breakdown
- Very high(≥ 90)94%
- Confident(70–90)3%
- Low(50–70)1%
- Very low(< 50)2%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MME
Chr 3q25.2membrane metalloendopeptidase
- Aliases:
- CALLA, CD10, NEP
- MANE:
- ENST00000360490.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Hereditary neuropathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAdult onset neurodegenerative disorder
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Disease associations (Open Targets)
Charcot-Marie-Tooth disease axonal type 2T
0.79charcot-marie-tooth disease, axonal, type 2t
0.73spinocerebellar ataxia 43
0.69heart failure
0.61congestive heart failure
0.51Charcot-Marie-Tooth disease type 2T
0.45congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
0.45Diarrhea
0.44hereditary disease
0.42MME-related autosomal dominant Charcot Marie Tooth disease type 2
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Neprilysin
Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:15283675, PubMed:6208535, PubMed:6349683, PubMed:8168535). Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond (PubMed:17101991, PubMed:6349683). Catalyzes cleavage of bradykinin, substance P and neurotensin peptides (PubMed:6208535). Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9 (PubMed:15283675, PubMed:6349683). Involved in the degradation of atrial natriuretic factor (ANF) and brain natriuretic factor (BNP(1-32)) (PubMed:16254193, PubMed:2531377, PubMed:2972276). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers (PubMed:20876573)
Diseases associated with MME
Curated MONDO disease pages that list MME among their top associated genes.