ABCC8
SUR1
Pathology
inactivating ABCC8 mutations in KATP channel-associated congenital hyperinsulinism
rare activating ABCC8 mutations in autosomal dominant diabetes (12559865)
Functional study of mutations
| Mutation | Functional alteration | Reference |
| DeltaF1388 | altered trafficking | - |
| A1457T | altered trafficking | - |
| V1550D | altered trafficking | - |
| L1551V | reduced surface expression | increased channel open probability |
References
Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM. Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet. 2007 Aug;81(2):375-82. PMID: 17668386
Huopio H, Shyng SL, Otonkoski T, Nichols CG. K(ATP) channels and insulin secretion disorders. Am J Physiol Endocrinol Metab. 2002 Aug;283(2):E207-16. PMID: 12110524