Gene: membrane metallo-endopeptidase; MME


Gene Symbol: MME
OMIM: 120520
Chromosome location: 3q25.2

Related informations:  NCBI Gene  Genome Browser  Ensembl  UniProt  GeneCards  Kyoto Encyclopedia  BioGPS  HGNC  HPRD  

Membranous glomerulonephritis, antenatal || c.466delC

Phenotype:    Membranous glomerulonephritis, antenatal
Dna Change:    c.466delC
Protein Change:    p.Pro156Leufs*14
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 6
Transcript:    NM_000902.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA2 patients/1 familyNAVivarelli M et al., 2015Vivarelli M, Emma F, Pellé T, Gerken C, Pedicelli S, Diomedi-Camassei F, Klaus G, Waldegger S, Ronco P, Debiec H, . Genetic homogeneity but IgG subclass-dependent clinical variability of alloimmune membranous nephropathy with anti-neutral endopeptidase antibodies.. Kidney Int.. 2015; 0(0):

References

Vivarelli M, Emma F, Pellé T, Gerken C, Pedicelli S, Diomedi-Camassei F, Klaus G, Waldegger S, Ronco P, Debiec H, Genetic homogeneity but IgG subclass-dependent clinical variability of alloimmune membranous nephropathy with anti-neutral endopeptidase antibodies.Kidney Int.. 2015; 0(0):