MUC1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | mucin 1, cell surface associated |
| EntrezGene | 4582 |
| PheGenI | 4582 |
| VariationViewer | 4582 |
| ClinVar | MUC1 |
| GeneCards | MUC1 |
| dbSNP | 4582 |
| Diseases | MUC1 |
| SADR | 4582 |
| HugeNav | 4582 |
| wikipedia | MUC1 |
| MUC1 | |
| gopubmed | MUC1 |
| EVS | MUC1 |
| HEFalMp | MUC1 |
| MyGene2 | MUC1 |
| 23andMe | MUC1 |
| UniProt | P15941 |
| Ensembl | ENSG00000185499 |
| OMIM | 158340 |
| # SNPs | 1 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs4072037 | 0 | 155,192,276 |
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
