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, Type 1 and Malignant Hyperthermia 5. Among its related pathways are DREAM Repression and Dynorphin Expression and TCR Signaling (Qiagen).

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 contribute to calcium signaling complexity across the physiological processes, from neuronal excitability to muscle contraction and hormone secretion.

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 used for movement (skeletal muscles).

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 sclerosis. polymorphisms in the CACNA1S gene is associated with Malignant Hyperthermia; a mutation of the CACNA1S gene may have a role in hypokalemic periodic paralysis

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-contraction coupling (summary by Schartner et al., 2017).

Exome sequencing revealed ten recessive or dominant mutations in CACNA1S (Ca v 1.1), the pore-forming subunit of DHPR in skeletal muscle. Both recessive and dominant mutations correlated with a consistent phenotype, a decrease in protein level, and with a major impairment of Ca 2+ release induced by depolarization in cultured myotubes.

2025年2月8日 · Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including extraocular skeletal muscle development; myotube differentiation; and skeletal muscle adaptation. Located in T-tubule and sarcoplasmic reticulum.

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 inactivating L-type voltage-dependent calcium channel in skeletal muscle cells.

该基因编码骨骼肌细胞中缓慢失活的 L 型电压依赖性钙通道的五个亚基之一。 该基因的突变与低血钾性周期性麻痹、甲状腺毒性周期性麻痹和恶性高热易感性有关。 [RefSeq 提供，2008 年 7 月] This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent Calcium Channel in skeletal muscle cells.

CACNA1S是位于1号染色体的 基因。 该基因编码骨骼肌细胞L型电压依赖性钙通道缓慢失活的五个亚基之一。 该基因突变与 低钾性周期性麻痹 、甲状腺毒性周期性麻痹和 恶性高热 易感性有关。 [由RefSeq提供，2008年7月] [1] CACNA1S是位于1号染色体的基因。