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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
KCNAB2 - Potassium Voltage-gated Channel Subfamily A Regulatory Beta Subunit 2
Alias:
AKR6A5
KCNA2B
HKvbeta2
KV-BETA-2
HKvbeta2.1
HKvbeta2.2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
电压门控钾通道(Kv通道)从功能和结构上讲是离子通道中最复杂的类别。它们的多种功能包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质转运、平滑肌收缩和细胞体积。在果蝇中已经鉴定出四个与钾通道相关的序列基因——shaker、shaw、shab和shal,每个基因都有人类同源基因。该基因编码钾通道、电压门控、shaker相关亚家族的成员。这个成员是辅助蛋白,与功能性Kv-α亚单位结合。这个成员改变了KCNA4基因产物的功能特性。这个基因的可变剪接产生了多个转录变体,编码不同的等位基因。[由RefSeq提供,2010年12月]
Related ID:
NCBI:8514
ENSEMBL:ENSG00000069424
HGNC:6229
UNIPROT:Q13303
OMIM:601142
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8514
15
16
108505 bp
41.00
51
1
6
14
KCNAB2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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