The abcc9 gene encodes an ATP-binding cassette transporter protein, specifically a sulfonylurea receptor subunit, which functions as an ATP-sensitive potassium (KATP) channel regulator. This membrane-b...[+]

The abcc9 gene encodes an ATP-binding cassette transporter protein, specifically a sulfonylurea receptor subunit, which functions as an ATP-sensitive potassium (KATP) channel regulator. This membrane-bound transporter is expressed in the heart, brain, eye, and cranial ganglia. It modulates electrical activity and vascular tone by mediating potassium efflux in response to intracellular ATP/ADP levels. [-]

             familial atrial fibrillation
             hypertrichotic osteochondrodysplasia Cantu type
             dilated cardiomyopathy 1O

          ATRIAL FIBRILLATION, FAMILIAL, 12; ATFB12
          CANTU SYNDROME

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD