The CACNA1S gene provides instructions for making the main piece (subunit) of a structure called a calcium channel. Channels containing the CACNA1S protein are found in muscles …

Ca v 1.1 also known as the calcium channel, voltage-dependent, L type, alpha 1S subunit, (CACNA1S), is a protein which in humans is encoded by the CACNA1S gene. [5] It is also …

CACNA1S encodes the alpha-1S subunit found in skeletal muscle, facilitating calcium influx during excitation–contraction coupling. The diverse members of the CACNA gene family …

2024年12月24日 · CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S) is a Protein Coding gene. Diseases associated with CACNA1S include Hypokalemic Periodic Paralysis, …

2025年2月8日 · We propose that CACNA1S mutations may comprise a previously unrecognized genetic risk factor in a greater spectrum of motor unit disorders including amyotrophic lateral …

The CACNA1S gene encodes a pore-forming subunit of the dihydropyridine receptor (DHPR) on the T-tubule in skeletal muscle, where it plays a role in calcium regulation during excitation …

We investigate the CACNA1S locus in detail in 50 independent MH patients, the largest study to date, to identify novel variants that may predispose to disease and also to characterise the …

While dominant CACNA1S mutations were previously linked to malignant hyperthermia susceptibility or hypokalemic periodic paralysis, our findings strengthen the importance of …

2024年12月10日 · Go to complete Gene record for CACNA1S; Go to Variation Viewer for CACNA1S variants; Summary. This gene encodes one of the five subunits of the slowly …

At least 11 mutations in the CACNA1S gene have been identified in people with hypokalemic periodic paralysis, a condition that causes episodes of extreme muscle weakness, usually in …