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中文人类
KCNMA1 - Potassium Calcium-activated Channel Subfamily M Alpha 1
Alias:
SLO
BKTM
SLO1
hSlo
IEG16
LIWAS
MaxiK
PNKD3
SAKCA
mSLO1
CADEDS
KCa1.1
SLO-ALPHA
bA205K10.1
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这个基因编码钙激活BK通道的α亚基。编码的蛋白质涉及几个生理过程，包括平滑肌收缩、神经递质释放和神经元兴奋性。这个基因的突变与一系列神经系统疾病有关，包括阵发性非肌张力障碍性舞蹈症3、特发性全面性癫痫16和梁-王综合征。[RefSeq，2022年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
KCNMA1 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
