ABCC8 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ABCC8 wild-type allele is located in the vicinity of 11p15.1 and is approximately 84 kb in length. This allele, which encodes ATP-binding cassette sub-family C member 8 protein, plays a role in the modulation of ATP-sensitive potassium channel activity and insulin release. Mutation of the gene is associated with leucine-sensitive hypoglycemia of infancy, familial hyperinsulinemic hypoglycemia 1, noninsulin-dependent diabetes mellitus, transient neonatal diabetes mellitus 2 and permanent neonatal diabetes mellitus 3, with or without neurologic features.

**Synonyms:** - ABC36 - ATP Binding Cassette Subfamily C Member 8 wt Allele - ATP-Binding Cassette Transporter Sub-Family C Member 8 Gene - ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 8 Gene - ATP-Binding Cassette, Subfamily C, Member 8 Gene - HHF1 - HI - HRINS - MRP8 - PHHI - PNDM3 - SUR - SUR1 - SUR1delta2 - Sulfonylurea Receptor (Hyperinsulinemia) Gene - Sulfonylurea Receptor, Beta Cell High Affinity Gene - TNDM2