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中文人类
KCNQ1 - Potassium Voltage-gated Channel Subfamily Q Member 1
Alias:
LQT
RWS
WRS
LQT1
SQT2
ATFB1
ATFB3
JLNS1
KCNA8
KCNA9
Kv1.9
Kv7.1
KVLQT1
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这个基因编码一个电压门控钾通道，是心脏动作电位复极化阶段所必需的。这个蛋白质可以与另外两个钾通道蛋白KCNE1和KCNE3形成异源多聚体。这个基因的突变与遗传性长QT综合症1（也称为Romano-Ward综合症）、Jervell和Lange-Nielsen综合症以及家族性心房颤动有关。这个基因在某些组织中表现出组织特异性印记，优先从母源等位基因表达，而在其他组织中表现为双等位基因表达。这个基因位于11号染色体的一个区域，该区域包含与其他与Beckwith-Wiedemann综合症（BWS）相关的印记基因，并且本身已经在BWS患者中显示出由染色体重排所破坏。已经发现了这个基因的替代剪接转录变异体。[由RefSeq，2011年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
KCNQ1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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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
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Name
MGI
Strain of Origin
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References Literature
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