TRPC4

Description

The TRPC4 (transient receptor potential cation channel subfamily C member 4) is a protein-coding gene located on chromosome 13.

TRPC4, short transient receptor potential channel 4, is a protein encoded by the TRPC4 gene in humans. It is a member of the transient receptor potential cation channels and forms a non-selective calcium-permeable cation channel. TRPC4 is activated by Gαi-coupled receptors, Gαq-coupled receptors, and tyrosine kinases, and plays a role in endothelial permeability, vasodilation, neurotransmitter release, and cell proliferation. It is highly expressed in the cortico-limbic regions of the brain, including midbrain dopaminergic neurons in the ventral tegmental area and substantia nigra. Deletion of the TRPC4 gene has been linked to decreased sociability and may be involved in social anxiety disorders. Single nucleotide polymorphisms in the TRPC4 gene have been associated with generalized epilepsy with photosensitivity.

TRPC4 forms a receptor-activated, non-selective calcium-permeable cation channel. It acts as a cell-cell contact-dependent endothelial calcium entry channel, likely regulated by a phosphatidylinositol second messenger system triggered by receptor tyrosine kinases or G-protein coupled receptors. This channel mediates cation entry, exhibiting greater permeability to barium than calcium. Additionally, TRPC4 can be activated by intracellular calcium store depletion.

TRPC4 is also known as HTRP-4, HTRP4, TRP4.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing