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中文人类
CLCN1 - Chloride Voltage-gated Channel 1
Alias:
CLC1
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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。这个基因的突变导致两种遗传性人类肌肉紊乱：隐性全身性肌强直性肌营养不良（Becker）和显性肌强直（Thomsen）。可变剪接导致多个转录变异体。[RefSeq，2012年3月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CLCN1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
