KCNA1 : potassium voltage-gated channel subfamily A member 1

Description

The KCNA1 (potassium voltage-gated channel subfamily A member 1) is a protein-coding gene located on chromosome 12.

The KCNA1 gene is part of a large family of genes responsible for producing potassium channels, which are essential for generating and transmitting electrical signals in cells. KCNA1 specifically provides instructions for creating the alpha subunit of a potassium channel known as Kv1.1. These channels are primarily found in the brain, where they facilitate the movement of potassium ions into nerve cells (neurons). The flow of ions, including potassium, regulates communication between neurons.

The KCNA1 gene encodes a voltage-gated potassium channel protein that facilitates potassium transport across cell membranes, particularly in the brain, central nervous system, and kidney. This protein contributes to regulating membrane potential, nerve signaling, and preventing neuronal hyperexcitability by forming tetrameric potassium-selective channels. The channel's opening and closing states are voltage-dependent, responding to changes in membrane potential. KCNA1 can assemble into homotetrameric channels composed solely of KCNA1 subunits, or heterotetrameric channels containing a mix of KCNA1 and other related subunits like KCNA2, KCNA4, KCNA5, KCNA6, and KCNA7. The specific composition of these subunits influences the channel's properties. Additionally, cytoplasmic beta subunits, like KCNAB1 and KCNAB2, modulate channel activity by regulating the location of alpha subunits and promoting rapid inactivation. KCNA1's role extends beyond neuronal function. It contributes to normal neuromuscular responses, regulates pain perception (specifically mechanical pain), is essential for auditory processing and sound localization, and plays a part in dopamine release. Moreover, KCNA1 participates in postnatal brain development, neuronal precursor cell proliferation, and magnesium ion homeostasis. It interacts with various proteins including DLG1, DLG2, DLG4, LGI1, STX1A, GNB1, GNG2, KCNRG, ANK3, and ADAM11. These interactions influence channel activity, subcellular localization, and overall function. In summary, KCNA1 is a multifaceted potassium channel protein with crucial roles in neuronal function, sensory processing, development, and ion homeostasis.

KCNA1 is also known as AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing