Myotonia Congenita - GeneReviews® - NCBI Bookshelf
2005年8月3日 · CLCN1 encodes the voltage-gated chloride channel ClC-1 (chloride channel protein 1), which is primarily expressed in the sarcolemma, where its main function is to …
CLCN1 Gene - GeneCards | CLCN1 Protein | CLCN1 Antibody
2025年3月28日 · CLCN1 (Chloride Voltage-Gated Channel 1) is a Protein Coding gene. Diseases associated with CLCN1 include Myotonia Congenita, Autosomal Recessive and Myotonia …
CLCN1 - Wikipedia
CLCN1 forms an ion channel that controls the flow of negatively charged chloride ions into these cells. The main function of this channel is to stabilize the cells' electrical charge, enabling …
CLCN1 chloride voltage-gated channel 1 [ (human)] - National …
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while …
CLCN1 gene - MedlinePlus
The CLCN1 gene provides instructions for making a type of protein called a chloride channel. These channels, which transport negatively charged chlorine atoms (chloride ions), play a key …
先天性肌强直一家系的 CLCN1 基因突变分析 - Yiigle.com
探讨1个先天性肌强直家系的离子通道蛋白-1 (chloride channel 1，CLCNl)基因突变特点。 收集先证者和其父母的临床资料并进行综合分析。 用PCR方法对先证者及其父母、弟弟的 CLCN1 …
Entry - *118425 - CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1 …
The muscle chloride channel CLCN1 regulates the electric excitability of the skeletal muscle membrane. Skeletal muscle has an unusually high resting Cl(-) conductance and in vitro …
氯电压门控通道 1（CLCN1）基因 | MCE - MCE-生物活性分子 ...
电压依赖性氯离子通道基因的 CLCN 家族包含九个成员 (CLCN1-7、Ka 和 Kb) ，它们表现出相当多样的功能特征，同时具有显着的序列同源性。 该基因编码的蛋白质调节骨骼肌膜的电兴奋 …
CLCN1人源基因|CLCN1基因突变_致病性_靶点-RDDC官网
电压依赖性氯通道家族包括九个成员（CLCN1-7，Ka和Kb），它们具有相当不同的功能特征，同时共享显著的序列同源性。 这个基因编码的蛋白质调节骨骼肌膜的电兴奋性。
Myotonia congenita: novel mutations in CLCN1 gene - PMC
Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited …