Search for a gene
ABCC8 - ATP binding cassette subfamily C member 8
- Synonym(s) : ABC36, HHF1, HI, MRP8, PHHI, sulfonylurea receptor (hyperinsulinemia), SUR1, TNDM2
- Previous symbols and names : ATP-binding cassette, sub-family C (CFTR/MRP), member 8, HRINS, SUR
- Type : gene with protein product
- Chromosomal location : 11p15.1
- OMIM: 600509
- HGNC: 59
- UniProtKB: Q09428
- Genatlas: ABCC8
- Ensembl: ENSG00000006071
- IUPHAR-DB: 2594
- Reactome: Q09428
- LOVD: ABCC8
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant hyperinsulinism due to SUR1 deficiency
- Disease-causing germline mutation(s) in Autosomal recessive hyperinsulinism due to SUR1 deficiency
- Disease-causing germline mutation(s) in DEND syndrome
- Disease-causing germline mutation(s) in Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
- Disease-causing germline mutation(s) in MODY
- Disease-causing germline mutation(s) in Permanent neonatal diabetes mellitus
- Disease-causing germline mutation(s) in Transient neonatal diabetes mellitus
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.