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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
- GenCC: 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
ORPHA:276575 
- Disease-causing germline mutation(s) in Autosomal recessive hyperinsulinism due to SUR1 deficiency
ORPHA:79643 - Disease-causing germline mutation(s) in DEND syndrome
ORPHA:79134 - Disease-causing germline mutation(s) in Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
ORPHA:276598 - Disease-causing germline mutation(s) in Isolated permanent neonatal diabetes mellitus
ORPHA:99885 - Disease-causing germline mutation(s) in MODY
ORPHA:552 - Disease-causing germline mutation(s) in Transient neonatal diabetes mellitus
ORPHA:99886
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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