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 regulate excitability and to stabilize the resting potential. Normally, the chloride conductance contributes 85% to the resting membrane conductance of human muscle, ensuring its ...

2024年12月24日 · CLCN1 (Chloride Voltage-Gated Channel 1) is a Protein Coding gene. Diseases associated with CLCN1 include Myotonia Congenita, Autosomal Recessive and Myotonia Congenita, Autosomal Dominant. Among its related pathways are Activation of cAMP-Dependent PKA and Ion channel transport.

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 muscles to contract normally.

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 role in a cell's ability to generate and transmit electrical signals.

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane.

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 基因进行DNA测序。 先证者 CLCN1 基因第8及11外显子各发现1处错义突变，分别是c．937G>A和c.1205C>T。 其母亲存在第8外显子c.937G>A突变，其父亲存在第11外显子c.1205C>T突变，其弟未见上述突变。 在一个先天性肌强直家系中发现了新的 CLCN1 突变位点，为研究我国人群 …

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 studies suggest that reduction of this conductance causes electrical instability and resulting myotonia in both humans and animal models.

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性。 该基因的突变导致两种形式的遗传性人类肌肉疾病：隐性全身性先天性肌强直 (Becker) 和显性肌强直 (Thomsen) 。 可变剪接导致多个转录本变体。 [RefSeq 提供，2012 年 3 月]

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 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 either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms.