| KCNQ1 |
| LOCUS ID | 3784 | |||||||||||||
| GENE_SYMBOL | KCNQ1 | |||||||||||||
| GENE NAME | potassium channel, v | |||||||||||||
| SYNONYMNS | LQT, RWS, WRS, LQT1, SQT2, ATFB1, ATFB3, JLNS1, KC8, KC9, Kv1.9, Kv7.1, KVLQT1 | |||||||||||||
| CHROMOSOME | 11 | |||||||||||||
| HOMOLOGENE ID | 85014 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the materl allele in |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. Several common KCNQ1 gene polymorphisms have been associated with the risk of type 2 diabetes (T2DM) and diabetic nephropathy. | 26970180 |
| Neuropathy | 1. Differential methylation of the type 2 diabetes susceptibility locus KCNQ1 is associated with insulin sensitivity and is predicted by CpG site specific genetic variation. | 30641161 |