Table 1 The genes implicated in congenital hyperinsulinism with the gene loci, proteins affected and patterns of inheritance
| Gene (locus) | OMIM | Protein | Mechanism | Inheritance |
| ABCC8(11p15.1) | 600509 | Sulfonylurea receptor1 (SUR1) | Defects in KATP biogenesis and turnover, trafficking and nucleotide regulation | AR/AD |
| KCNJ11(11p15.1) | 600937 | Inward rectifying potassium channel (Kir6.2) | Defects in KATP biogenesis and turnover, trafficking and nucleotide regulation | AR/AD |
| GLUD1(10q23.3) | 138130 | Glutamate dehydrogenase (GDH) | Loss of inhibition of GDH by GTP and increased basal GDH activity | AD |
| GCK(7p15–13) | 138079 | Glucokinase | Increased affinity of GCK for glucose | AD |
| HADH(4q22–26) | 601609 | 3-hydroxyacyl-CoA dehydrogenase | Unknown | AR |
| SLC16A1(1p13.2–p12) | 600682 | Monocarboxylate transporter 1 (MCT1) | Increased expression of MCT1 | AD |
| HNF4A(20q12–13.1) | 600281 | Hepatocyte nuclear factor 4 alpha | Unknown | AD |
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AD, autosomal dominant; AR, autosomal recessive.
