Potassium voltage-gated channel, Shaw-related subfamily, member 3 also known as KCNC3 or Kv3.3 is a protein that in humans is encoded by the KCNC3. [5]
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and comprises four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. [6] [7] [8]
KCNC3 is associated with spinocerebellar ataxia type 13. [9]
Potassium voltage-gated channel subfamily A member 1 also known as Kv1.1 is a shaker related voltage-gated potassium channel that in humans is encoded by the KCNA1 gene. The Isaacs syndrome is a result of an autoimmune reaction against the Kv1.1 ion channel.
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is caused by mutations in KCNC3, a gene encoding a voltage-gated potassium channel KV3.3. There are two known mutations in this gene causative for SCA13. Unlike many other types of SCA, these are not polyglutamine expansions but, rather, point mutations resulting in channels with no current or altered kinetics.
Potassium voltage-gated channel subfamily D member 2 is a protein that in humans is encoded by the KCND2 gene. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.
Potassium voltage-gated channel subfamily A member 2 also known as Kv1.2 is a protein that in humans is encoded by the KCNA2 gene.
Potassium voltage-gated channel subfamily A member 4 also known as Kv1.4 is a protein that in humans is encoded by the KCNA4 gene. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.
Potassium voltage-gated channel subfamily D member 3 also known as Kv4.3 is a protein that in humans is encoded by the KCND3 gene. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.
Voltage-gated potassium channel subunit beta-2 is a protein that in humans is encoded by the KCNAB2 gene.
Potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), also known as Kv3.4, is a human gene.
Potassium voltage-gated channel subfamily S member 3 (Kv9.3) is a protein that in humans is encoded by the KCNS3 gene. KCNS3 gene belongs to the S subfamily of the potassium channel family. It is highly expressed in pulmonary artery myocytes, placenta, and parvalbumin-containing GABA neurons in brain cortex. In humans, single-nucleotide polymorphisms of the KCNS3 gene are associated with airway hyperresponsiveness, whereas decreased KCNS3 mRNA expression is found in the prefrontal cortex of patients with schizophrenia.
Potassium voltage-gated channel subfamily C member 1 is a protein that in humans is encoded by the KCNC1 gene.
Potassium voltage-gated channel subfamily G member 1 is a protein that in humans is encoded by the KCNG1 gene.
Potassium voltage-gated channel subfamily A member 6 also known as Kv1.6 is a protein that in humans is encoded by the KCNA6 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.
Potassium voltage-gated channel subfamily A member 7 also known as Kv1.7 is a protein that in humans is encoded by the KCNA7 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit. It may contribute to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.
Potassium voltage-gated channel subfamily A member 10 also known as Kv1.8 is a protein that in humans is encoded by the KCNA10 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.
Potassium voltage-gated channel subfamily B member 2 is a protein that in humans is encoded by the KCNB2 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.
Potassium voltage-gated channel subfamily C member 2 is a protein that in humans is encoded by the KCNC2 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit (Kv3.2).
Potassium voltage-gated channel subfamily G member 2 is a protein that in humans is encoded by the KCNG2 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.
Potassium voltage-gated channel subfamily G member 3 is a protein that in humans is encoded by the KCNG3 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.
Potassium voltage-gated channel subfamily G member 4 is a protein that in humans is encoded by the KCNG4 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.
Potassium voltage-gated channel subfamily V member 1 is a protein that in humans is encoded by the KCNV1 gene. The protein encoded by this gene is a voltage-gated potassium channel subunit.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.