MME Chromosome 3
Membrane metalloendopeptidase
Upload your DNA to see your personal genotypes for variants in MME.
What This Gene Does
The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"CD molecules|M13 metallopeptidases|Elastases"
Locus Type
gene with protein product
Location
3q25.2
Ensembl
ENSG00000196549
Associated Conditions (14)
Charcot-Marie-Tooth disease axonal type 2T
Spinocerebellar ataxia 43
Peripheral neuropathy
Inborn genetic diseases
Familial cancer of breast
Early-onset dementia of unclear type
Distal myopathy
MME-related disorder
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
MME-related distal hereditary motor neuropathies
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease type 2T
See cases
Ovarian serous cystadenocarcinoma
Key Variants
RS1003705057
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
Health Risk
RS1060499935
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
Health Risk
RS1158932542
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
Health Risk
RS1209332250
Conflicting classifications of pathogenicity
Health Risk
RS1284714866
Conflicting classifications of pathogenicity
Spinocerebellar ataxia 43, Spinocerebellar ataxia 43
Health Risk
RS182602615
Conflicting classifications of pathogenicity
Peripheral neuropathy, Peripheral neuropathy
Health Risk
RS184666602
Conflicting classifications of pathogenicity
Spinocerebellar ataxia 43, Spinocerebellar ataxia 43
Health Risk
RS200157166
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200308077
Conflicting classifications of pathogenicity
Health Risk
RS201002280
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spinocerebellar ataxia 43, Charcot-Marie-Tooth disease axonal type 2T
Health Risk
RS201494121
Conflicting classifications of pathogenicity
Familial cancer of breast, Familial cancer of breast
Health Risk
RS202095767
Conflicting classifications of pathogenicity
Early-onset dementia of unclear type, Early-onset dementia of unclear type
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2108303574 | Health Risk | Pathogenic | — |
| RS2108307852 | Health Risk | Pathogenic | — |
| RS2108308008 | Health Risk | Pathogenic | — |
| RS2108315303 | Health Risk | Pathogenic | — |
| RS2108325656 | Health Risk | Pathogenic | — |
| RS2108366317 | Health Risk | Pathogenic | — |
| RS2472975711 | Health Risk | Pathogenic | — |
| RS2473073314 | Health Risk | Pathogenic | — |
| RS2473073611 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS2473074693 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS2473092293 | Health Risk | Pathogenic | — |
| RS2473093166 | Health Risk | Pathogenic | — |
| RS2473134646 | Health Risk | Pathogenic | — |
| RS2473156024 | Health Risk | Pathogenic | — |
| RS2473178464 | Health Risk | Pathogenic | MME-related distal hereditary motor neuropathies, MME-related distal hereditary motor neuropathies |
| RS368888340 | Health Risk | Pathogenic | — |
| RS61758195 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS746439998 | Health Risk | Pathogenic | — |
| RS749150627 | Health Risk | Pathogenic | — |
| RS751149568 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2T |
| RS753679568 | Health Risk | Pathogenic | — |
| RS764731848 | Health Risk | Pathogenic | — |
| RS765591205 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS772217958 | Health Risk | Pathogenic | — |
| RS781376762 | Health Risk | Pathogenic | — |
| RS879253751 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS879255651 | Health Risk | Pathogenic | Spinocerebellar ataxia 43, Spinocerebellar ataxia 43 |
| RS886039755 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS1254522989 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia 43, Charcot-Marie-Tooth disease axonal type 2T, Spinocerebellar ataxia 43 |
| RS1402177037 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS150836510 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia 43, Spinocerebellar ataxia 43 |
| RS200435950 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS200678412 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS201328537 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS201692212 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS202011191 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS371862411 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia 43, Spinocerebellar ataxia 43 |
| RS749320057 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Spinocerebellar ataxia 43, Charcot-Marie-Tooth disease type 2T |
| RS759072209 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Ovarian serous cystadenocarcinoma, Charcot-Marie-Tooth disease axonal type 2T |
| RS764060752 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS765231758 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |
| RS765778616 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T |