The gene is located on the Watson (plus) strand of the short arm of chromosome 12 (12p13.32). The gene itself is 8,348 bases in length and encodes a protein of 495 amino acids (predicted molecular weight 56.466 kilo daltons).

2021年7月26日 · Our data implicate K v 1.1 subunits in controlling spontaneous excitatory synaptic activity in BLA pyramidal neurons. In the CeL, K v 1.1 loss enhances intrinsic excitability and impairs...

Kv1.1属于电压门控钾通道的Shaker子家族，在中枢神经系统和周围神经系统中充当神经元兴奋性的关键调节剂。KCNA1是唯一与发作性共济失调1型（EA1）相关的基因，这是一种以共济失调和肌强直为特征的常染色体显性遗传疾病，目前已经报道了其不同和可变的表型。

Loss-of-function mutations in the KCNA1 (Kv1.1) gene cause episodic ataxia type 1 (EA1), a neurological disease characterized by cerebellar dysfunction, ataxic attacks, persistent myokymia with painful cramps in skeletal muscles, and epilepsy.

2020年4月22日 · Kv1.1 belongs to the <i>Shaker</i> subfamily of voltage-gated potassium channels and acts as a critical regulator of neuronal excitability in the central and peripheral nervous systems. <i>KCNA1</i> is the only gene that has been associated with episodic ataxia type 1 (EA1), an autosomal dominant di …

2020年4月22日 · KCNA1 on chromosome 12p13 encodes the Kv1.1 voltage-gated delayed rectifier K + channel, a protein of 496 amino acids belonging to the Shaker family of voltage-gated potassium channels. Kv1.1 channels are composed of four homologous alpha subunits, each comprising six transmembrane segments (S1–S6) and intracellular N- and C-terminal domains.

Kv1.1 and Kv1.2 knockout mice both have seizures beginning early in development; however, each express a different seizure type (pathway), although the channels are from the same subfamily and are abundantly coexpressed.

2020年4月24日 · The Shaker-related Kv1 (Kv1.1-Kv1.8) channels display characteristic low threshold voltage activation ranges, well suited to regulate action potential (AP) threshold and waveform, global or...

Voltage-gated Kv1.1 channels encoded by the Kcna1 gene are traditionally regarded as being neural-specific with no known expression or intrinsic functional role in the heart. However, recent studies in mice reveal low-level Kv1.1 expression in heart and cardiac abnormalities associated with Kv1.1-de …

Voltage-gated Kv1.1 potassium channel α-subunits are broadly expressed in the nervous system where they act as critical regulators of neuronal excitability. Mutations in the KCNA1 gene, which encodes Kv1.1, are associated with the neurological diseases episodic ataxia and epilepsy.