ERICH2

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Ideogram house mouse chromosome 2

ERICH2

ERICH2, also known as Glutamate receptor ionotropic kainate 4, is a protein-coding gene. This gene is located on chromosome 6 in humans and is involved in the regulation of glutamate receptors. ERICH2 plays a crucial role in synaptic transmission and plasticity in the brain.

Function

ERICH2 is a member of the ionotropic glutamate receptor family and is specifically involved in the modulation of kainate receptors. These receptors are important for excitatory neurotransmission in the central nervous system. ERICH2 functions by regulating the activity of kainate receptors, which are essential for synaptic plasticity and learning and memory processes.

Structure

The ERICH2 gene encodes a protein that consists of multiple domains, including transmembrane regions and ligand-binding domains. These structural features enable ERICH2 to interact with other proteins and molecules involved in glutamate signaling pathways.

Clinical Significance

Mutations in the ERICH2 gene have been associated with neurological disorders such as epilepsy and cognitive impairments. Dysregulation of glutamate receptors, including kainate receptors modulated by ERICH2, can lead to abnormal synaptic function and neuronal excitability, contributing to the pathogenesis of these disorders.

Research

Studies investigating the role of ERICH2 in neurological diseases have provided valuable insights into the molecular mechanisms underlying synaptic dysfunction. Further research is needed to elucidate the specific functions of ERICH2 and its potential as a therapeutic target for treating neurological disorders associated with glutamate receptor dysregulation.

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Contributors: Prab R. Tumpati, MD