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MUC1

From SNPedia

is agene
is mentioned by
Full namemucin 1, cell surface associated
EntrezGene4582
PheGenI4582
VariationViewer4582
ClinVarMUC1
GeneCardsMUC1
dbSNP4582
DiseasesMUC1
SADR4582
HugeNav4582
wikipediaMUC1
googleMUC1
gopubmedMUC1
EVSMUC1
HEFalMpMUC1
MyGene2MUC1
23andMeMUC1
UniProtP15941
EnsemblENSG00000185499
OMIM158340
# SNPs1
 Max MagnitudeChromosome positionSummary
rs4072037155,192,276

The MUC1 gene encodes a transmembrane mucin normally expressed on the apical borders of secretory epithelial cells. In 2013, a mutation consisting of an insertion of a single cytosine (C) in a long (1.5-5.0 kb) GC-rich coding variable number tandem repeat (VNTR) sequence in the MUC1 gene was identified as a cause of dominantly inherited medullary cystic kidney disease. This location makes the mutation very difficult to detect.[PMID 23396133]

In 2017, a novel frameshift mutation consisting of a deletion of two bases before the VNTR region in the MUC1 gene was reported to co-segregate with the insertion mutation found within the VNTR, at least in one family with tubulointerstitial kidney disease (ADTKD).10.1093/ndt/gfx083