- accession:NM_000083
- 基因别名:CLCN1
- 基因描述:Homo sapiens chloride channel, voltage-sensitive 1 (CLCN1), transcript variant 1, mRNA.
- 载体:现货载体
- CDS区长度:2967
- 翻译后氨基酸长度:988
- TranscriptVariant:This variant (1) encodes the functional protein.
- 基因简介: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. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列