GLUD1 across dismech

GLUD1 (glutamate dehydrogenase 1) is named by 2 disorder entries, including Congenital Isolated Hyperinsulinism; and Hyperinsulinemic Hypoglycemia.

Normal function

ai-gene-review gives GLUD1's core molecular functions as ADP binding; and L-glutamate dehydrogenase [NAD(P)+] activity, in the mitochondrial matrix, acting in L-glutamate catabolic process; and tricarboxylic acid metabolic process.

Causative records

Both entries record the variant origin as germline, and ClinGen rates the gene definitive for hyperinsulinism-hyperammonemia syndrome, a subtype of each entry. The gene sits on Glutamate Dehydrogenase Dysregulation (Amino-Acid-Driven HI) and Glutamate Dehydrogenase Amino-Acid Amplifier Activation. The disease is gain of function: the Congenital Isolated Hyperinsulinism node records glutamate dehydrogenase activity as increased, the same activity that is the gene's normal core function.

Where the layers disagree

The KB and ai-gene-review share 0 GO process terms: the KB nodes are annotated with insulin-secretion processes, the review with glutamate catabolism.