About: MME wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • MME wt Allele
equivalentClass
OMIM_Number
  • 120520
GenBank_Accession_Number
  • NM_000902
Semantic_Type
  • Gene or Genome
Preferred_Name
  • MME wt Allele
UMLS_CUI
  • C1706431
GO_Annotation
  • integral to plasma membraneGO:0005887TAS29-SEP-2003CGAP
  • proteolysis and peptidolysisGO:0006508TAS29-SEP-2003CGAP
  • cell-cell signalingGO:0007267TAS29-SEP-2003CGAP
  • plasma membraneGO:0005886TAS29-SEP-2003CGAP
  • metallopeptidase activityGO:0008237TAS29-SEP-2003CGAP
EntrezGene_ID
  • 4311
Legacy_Concept_Name
  • MME_wt_Allele
HGNC_ID
  • HGNC:7154
FULL_SYN
  • NEPSYNCI
  • MME wt AllelePTNCI
  • CD10SYNCI
  • CALLASYNCI
  • Membrane Metallo-Endopeptidase (Neutral Endopeptidase, Enkephalinase, CALLA, CD10) wt AlleleSYNCI
Gene_Encodes_Product
  • Membrane Metalloendopeptidase
DEFINITION
  • Human MME wild-type allele is located within 3q25.1-q25.2 and is approximately 104 kb in length. This allele, which encodes neprilysin protein, plays a role in the destruction of polypeptides containing up to 30 amino acids. An allelic variant of the MME gene is associated with fetomaternal alloimmunisation with antenatal glomerulopathies and membranous glomerulonephritis (FMAIG) as well as with renal failure in early adulthood. The MME gene is also associated with susceptibility to late-onset Alzheimer's disease.NCI
code
  • C49727
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