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中文人类
KCNJ13 - Potassium Inwardly Rectifying Channel Subfamily J Member 13
Alias:
SVD
LCA16
KIR1.4
KIR7.1
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这个基因编码内向整流钾通道家族蛋白质的一员。这个家族的成员形成允许钾离子进入细胞的离子通道孔。编码的蛋白质属于一个低信号通道传导率蛋白质的亚家族，这个亚家族对钾浓度的依赖性较低。这个基因的突变与雪花状玻璃体视网膜变性有关。交替剪接导致多个转录变异体。[RefSeq, 2010年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
KCNJ13 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
