Primary Identifier | IPR001475 | Type | Family |
Short Name | ABCC9 |
description | ATP-binding cassette subfamily C member 9 (ABCC9, also known as the sulphonylurea receptor SUR2) is an atypical member of the ABC transporter family. Although it has the requisite domains to function as a transporter, it is a regulator of a potassium channel to which it is directly coupled in a hetero-octameric complex []. Mutations in ABCC9 cause Cantu syndrome (CS), a distinct multiorgan disease, potentially via enhanced KATP channel activity []. |