PMID: 12941953

Babenko AP, Bryan J
Sur domains that associate with and gate KATP pores define a novel gatekeeper.
J Biol Chem. 2003 Oct 24;278(43):41577-80. Epub 2003 Aug 26., [PubMed]
Sentences
No. Mutations Sentence Comment
144 ABCC8 p.Ala116Pro
X
ABCC8 p.Ala116Pro 12941953:144:83
status: NEW
view ABCC8 p.Ala116Pro details
 The model suggests how SUR1 mutations in the 5Ј portion of human ABCC8, e.g. A116P, cause familial hyperinsulinemia (30) and how a polymorphism, E23K, in the distal N terminus of KIR6.2 can increase the PO of KATP channels in insulin secreting beta-cells of pancreatic islets, increasing the risk of type 2 diabetes (31). Login to comment 148 ABCC8 p.Ala116Pro
X
ABCC8 p.Ala116Pro 12941953:148:83
status: NEW
view ABCC8 p.Ala116Pro details
 The model suggests how SUR1 mutations in the 5b18; portion of human ABCC8, e.g. A116P, cause familial hyperinsulinemia (30) and how a polymorphism, E23K, in the distal N terminus of KIR6.2 can increase the PO of KATP channels in insulin secreting beta-cells of pancreatic islets, increasing the risk of type 2 diabetes (31). Login to comment