HIVEP2

Molecular characteristics

HIVEP2 disorder is transmitted in an autosomal dominant manner, which means only one of the two copies of the gene needs to be defective in order for the disorder to result. The vast majority of the genetic misspellings reported with HIVEP2 disorder have been so-called nonsense or frameshift changes, which cause the protein to be incompletely formed or not formed altogether. 

Decreased function of the HIVEP2 protein is likely the cause of the disorder. This gene acts like a switch that turns on/off other genes. These other genes may play a role in the activity of the synapse (the fundamental unit of connection between nerve cells), as well as in how nerve cells release chemicals to communicate with each other.

Mice which are missing a copy of the HIVEP2 gene have behavioural abnormalities which may partly resemble the features seen in humans with the condition. In addition, they demonstrate abnormalities in the development of a structure of the brain called the hippocampus, which plays a role in learning and memory.