ABCC8 - Wikipedia
ATP-binding cassette transporter sub-family C member 8 is a protein that in humans is encoded by the ABCC8 gene. [ 5 ] [ 6 ] ABCC8 orthologs [ 7 ] have been identified in all mammals for …
ABCC8 Gene - GeneCards | ABCC8 Protein | ABCC8 Antibody
2024年10月1日 · ABCC8 (ATP Binding Cassette Subfamily C Member 8) is a Protein Coding gene. Diseases associated with ABCC8 include Hyperinsulinemic Hypoglycemia, Familial, 1 …
ABCC8 gene - MedlinePlus
ABCC8 gene mutations that cause permanent neonatal diabetes mellitus change single amino acids in the protein sequence. These mutations result in K-ATP channels that do not close, …
ABCC8 ATP binding cassette subfamily C member 8 [ (human)]
An ABCC8/SUR1 mutation with relatively minor effects on K(ATP) channel activity and beta-cell glucose sensing causes diabetes in adulthood. This new ABCC8 mutation is associated with …
Congenital Hyperinsulinism: Diagnosis and Treatment Update
CHI is the most common cause of severe hypoglycaemia in the newborn and childhood period. The molecular basis of CHI involves defects in key genes (ABCC8, KCNJ11, GLUD1, GCK, …
Clinical and Genetic Characteristics of ABCC8 Nonneonatal ...
According to the onset age, DM induced by the ABCC8 variants are classified as two major groups of disorders—ABCC8-induced nonneonatal diabetes mellitus (ABCC8-NNDM) and …
Congenital hyperinsulinism - MedlinePlus
Mutations in at least nine genes have been found to cause congenital hyperinsulinism. Mutations in the ABCC8 gene are the most common known cause of the disorder. They account for this …