ABCC8 Chromosome 11
ATP binding cassette subfamily C member 8
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What This Gene Does
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
ATP binding cassette subfamily C
Locus Type
gene with protein product
Location
11p15.1
Ensembl
ENSG00000006071
Associated Conditions (30)
Transitory neonatal diabetes mellitus
Maturity-onset diabetes of the young
Hyperinsulinemic hypoglycemia
familial
1
Permanent neonatal diabetes mellitus
Diabetes mellitus
transient neonatal
2
Hereditary hyperinsulinism
Leucine-induced hypoglycemia
permanent neonatal 3
Hyperinsulinemia
Type 2 diabetes mellitus
Neonatal diabetes mellitus
Familial hyperinsulinism
Inborn genetic diseases
ABCC8-related disorder
Pulmonary arterial hypertension
Monogenic diabetes
+10 more conditions
Key Variants
RS1007498516
Conflicting classifications of pathogenicity
Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
Health Risk
RS1038735802
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
Health Risk
RS1048099
Conflicting classifications of pathogenicity
Hyperinsulinemic hypoglycemia, familial, 1
Health Risk
RS1057467571
Conflicting classifications of pathogenicity
Diabetes mellitus, permanent neonatal 3, Type 2 diabetes mellitus
Health Risk
RS1057516404
Conflicting classifications of pathogenicity
Hyperinsulinemic hypoglycemia, familial, 1
Health Risk
RS1057516509
Conflicting classifications of pathogenicity
Hyperinsulinemic hypoglycemia, familial, 1
Health Risk
RS1057516542
Conflicting classifications of pathogenicity
Hyperinsulinemic hypoglycemia, familial, 1
Health Risk
RS1057516585
Conflicting classifications of pathogenicity
Hyperinsulinemic hypoglycemia, familial, 1
Health Risk
RS1057516589
Conflicting classifications of pathogenicity
Hyperinsulinemic hypoglycemia, familial, 1
Health Risk
RS1057516718
Conflicting classifications of pathogenicity
Hyperinsulinemic hypoglycemia, familial, 1
Health Risk
RS1057517050
Conflicting classifications of pathogenicity
Hyperinsulinemic hypoglycemia, familial, 1
Health Risk
RS1057517199
Conflicting classifications of pathogenicity
Hyperinsulinemic hypoglycemia, familial, 1
Health Risk
All Variants (728)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS750586210 | Health Risk | Pathogenic/Likely pathogenic | Familial hyperinsulinism, Hereditary hyperinsulinism, Hyperinsulinemic hypoglycemia |
| RS751279984 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS753296261 | Health Risk | Pathogenic/Likely pathogenic | Type 2 diabetes mellitus, Hyperinsulinemic hypoglycemia, familial |
| RS755259997 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS756823374 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS757171524 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS758231286 | Health Risk | Pathogenic/Likely pathogenic | Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus, Type 2 diabetes mellitus |
| RS758754046 | Health Risk | Pathogenic/Likely pathogenic | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS760062120 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hyperinsulinism, Diabetes mellitus, transient neonatal |
| RS760494159 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS761749884 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS766312766 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS766431403 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS767500007 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS769989185 | Health Risk | Pathogenic/Likely pathogenic | Type 2 diabetes mellitus, Maturity-onset diabetes of the young, Hyperinsulinemic hypoglycemia |
| RS772723050 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS773306994 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS774574576 | Health Risk | Pathogenic/Likely pathogenic | Type 2 diabetes mellitus, Hyperinsulinemic hypoglycemia, familial |
| RS781090024 | Health Risk | Pathogenic/Likely pathogenic | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS781617345 | Health Risk | Pathogenic/Likely pathogenic | Hereditary hyperinsulinism, Diabetes mellitus, transient neonatal |
| RS786204542 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS797045209 | Health Risk | Pathogenic/Likely pathogenic | Diabetes mellitus, transient neonatal, 2 |
| RS797045213 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS80356637 | Health Risk | Pathogenic/Likely pathogenic | Diabetes mellitus, permanent neonatal 3, Permanent neonatal diabetes mellitus |
| RS863225280 | Health Risk | Pathogenic/Likely pathogenic | Familial hyperinsulinism, Hyperinsulinemic hypoglycemia, familial |
| RS886041391 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS925231098 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |
| RS980458021 | Health Risk | Pathogenic/Likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 |