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中文人类
CLCN5 - Chloride Voltage-gated Channel 5
Alias:
XRN
CLC5
XLRH
CLCK2
ClC-5
DENT1
DENTS
NPHL1
NPHL2
hCIC-K2
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这个基因编码ClC家族的一员，该家族包括氯离子通道和离子转运蛋白。编码的蛋白质主要定位在内质网膜上，可能有助于肾近端小管对白蛋白的摄取。这个基因的突变与Dent病和伴有肾结石的肾小管障碍有关。已经发现了这个基因的可变剪接转录变异体。[由RefSeq，2013年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CLCN5 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
