Synonym(s)
ATP Binding Cassette, Sub-Family C (CFTR/MRP), Member 8; ATP Binding Cassette Subfamily C Member 8; ATP Binding Cassette Transporter Sub-Family C Member 8; HRINS; OMIM 600509; sulfonylurea receptor (Hyperinsulinemia); SUR; SUR1
DefinitionThis section has been translated automatically.
The protein encoded by this gene belongs to the superfamily of ATP binding cassette (ABC) transporters. ABC proteins transport different molecules across extra- and intracellular membranes. ABC genes are divided into 7 different subfamilies (ABC1, MDR / TAP, MRP, ALD, OABP, GCN20, White).
The ABC protein belongs to the MRP subfamily, which is involved in resistance to several drugs. This protein acts as a modulator of ATP-sensitive potassium channels and insulin release.
Other diseases caused by ABCC8 mutations:
- Disease-causing germline mutation(s) DEND syndrome ORPHA:79134
- Disease-causing germline mutation(s) Diabetes mellitus, neonatal permanent ORPHA:99885
- Disease-causing germline mutation(s) Diabetes mellitus, neonatal transient ORPHA:99886
- Pathogenic germline mutation(s) hyperinsulinism due to SUR1 deficiency, autosomal dominant ORPHA:276575
- Pathogenic germline mutation(s) hyperinsulinism due to SUR1 deficiency, autosomal recessive ORPHA:79643
- Pathogenic germline mutation(s) hyperinsulinism, focal, diazoxide resistant, due to SUR1 deficiency ORPHA:276598
- Monogenic, autosomal-dominantly inherited mutation: MODY 12
Prof. Dr. med. Peter Altmeyer