KCNH2: A Protein Linked To Various Disorders (G3757)

Target Name: KCNH2

NCBI ID: G3757

KCNH2

KCNH2: A Protein Linked To Various Disorders

KCNH2 (Potassium voltage-gated channel subfamily H member 2) is a protein that plays a crucial role in various physiological processes in the human body. It is a member of the voltage-gated channel subfamily H, which is a family of transmembrane proteins that are known for their ability to regulate the passage of potassium ions into and out of cells. Mutations in the KCNH2 gene have been linked to a range of neurological and cardiovascular disorders, making it an attractive drug target and a potential biomarker for several diseases.

Structure and Function

The KCNH2 protein is a 22 kDa protein that is composed of 118 amino acid residues. It has a unique structure that is characterized by a long N-terminus that contains a putative N-methyl-D-aspartate (NMDA) receptor binding site, as well as a C-terminus that contains a putative G protein-coupled receptor (GPCR) binding site. The protein is also known to have a unique kinetic profile, with a slow inward and rapid outward flow of potassium ions.

The KCNH2 protein is a voltage-gated channel that is responsible for regulating the passage of potassium ions into and out of cells. It has a unique pore structure that allows it to selectively allow potassium ions to flow in and out of the cell. This is accomplished through the interaction of the protein with the plasma membrane, where it interacts with the channel open state regulator (CER), a protein that is responsible for regulating the open state of the channel.

KCNH2 is also known for its role in neurotransmitter release and its involvement in the regulation of pain perception. Studies have shown that changes in the expression and activity of KCNH2 have an impact on neurotransmitter release and pain perception, making it an important protein for study in neuroscience and neuropharmacology.

Disease associated with KCNH2 mutations

Mutations in the KCNH2 gene have been linked to a range of neurological and cardiovascular disorders. Studies have shown that individuals with certain genetic mutations, such as those in the SCN1A gene, are at an increased risk for developing symptoms of epilepsy, schizophrenia, and other psychiatric disorders. These mutations have been shown to cause changes in the expression and activity of KCNH2, leading to alterations in its function and role in neurotransmission.

In addition to its role in neurological disorders, KCNH2 mutations have also been linked to other health problems, including cardiovascular disease and diabetes. Studies have shown that individuals with certain genetic mutations, such as those in the SCN2A gene, are at an increased risk for developing sudden cardiac death and other cardiovascular disorders. These mutations have been shown to cause changes in the expression and activity of KCNH2, leading to alterations in its function and role in cardiac function.

As a drug target, KCNH2 has been shown to be a promising target for several neuroscience and psychiatric disorders. Studies have shown that modulation of the activity of KCNH2 has a positive effect on the expression of genes involved in neurotransmission, including those involved in the regulation of pain perception and the regulation of emotional behavior.

In addition to its potential therapeutic applications, KCNH2 is also an attractive biomarker for several neurological and psychiatric disorders. Studies have shown that individuals with certain genetic mutations, such as those in the SCN1A gene, are at an increased risk for developing symptoms of epilepsy, schizophrenia, and other psychiatric disorders. These mutations have

Protein Name: Potassium Voltage-gated Channel Subfamily H Member 2

Functions: Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr) (PubMed:18559421, PubMed:26363003, PubMed:27916661)

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