SCN4A Gene - GeneCards | SCN4A Protein | SCN4A Antibody
2024年12月25日 · SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4) is a Protein Coding gene. Diseases associated with SCN4A include Paramyotonia Congenita and Hyperkalemic …
SCN4A gene - MedlinePlus
The SCN4A gene provides instructions for making a critical part (the alpha subunit) of sodium channels that are abundant in muscles used for movement (skeletal muscles). For the body to …
SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 4; SCN4A
The SCN4A gene encodes the alpha subunit of the skeletal muscle voltage-gated sodium channel Na(v)1.4. This channel is essential for the generation and propagation of the muscle action …
Hyperkalemic Periodic Paralysis - GeneReviews® - NCBI Bookshelf
2003年7月18日 · The diagnosis of hyperPP is established in a proband with suggestive findings and a heterozygous pathogenic variant in SCN4A identified by molecular genetic testing. In …
钠电压门控通道 α 亚基 4（SCN4A）基因 | MCE
电压门控钠通道是由具有 24 个跨膜结构域的大 α 亚基和一个或多个调节性 β 亚基组成的跨膜糖蛋白复合物。 它们负责神经元和肌肉中动作电位的产生和传播。 该基因编码钠通道α亚基基因家 …
Mutations in SCN4A: a rare but treatable cause of recurrent life ...
Mutations in SCN4A encoding the voltage-gated sodium channel NaV1.4 have been implicated in a wide spectrum of neuromuscular disorders with variable onset, ranging from a rare form of …
SCN4A sodium voltage-gated channel alpha subunit 4 [ (human)]
Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing. Potential predictive value of SCN4A mutation status …
人类骨骼肌钠离子通道病_基因突变 - 搜狐
2018年10月17日 · 骨骼肌钠通道病和钠通道的α亚单位基因（SCN4A）突变有关，从1990年 Fontaines首次在SCN4A基因发现致病突变以来[3]，目前发现了大约60余种SCN4A基因突变 …
SCN4A sodium voltage-gated channel alpha subunit 4
2025年2月8日 · Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more …
SCN4A人源基因|SCN4A基因突变_致病性_靶点-RDDC官网
电压门控钠通道是跨膜糖蛋白复合物，由具有24个跨膜结构域的大型α亚基和一个或多个调节性β亚基组成。 它们负责神经元和平肌细胞中动作电位的产生和传播。 该基因编码钠通道α亚基基因 …