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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
ENSA - Endosulfine Alpha
Alias:
ARPP-19e
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
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References Literature
这个基因编码的蛋白质属于高度保守的cAMP调节的磷酸蛋白(ARPP)家族。这种蛋白质被鉴定为磺酰脲受体的内源配体,ABCC8/SUR1。ABCC8是ATP敏感钾(KATP)通道的调节亚单位,位于胰腺β细胞的质膜上,在控制胰岛素从胰腺β细胞释放方面发挥关键作用。这个蛋白质被认为是KATP通道的内源调节剂。体外研究表明,这个蛋白质通过与KATP通道相互作用调节胰岛素分泌,并且这个基因被提议作为2型糖尿病的候选基因。至少观察到了编码不同异型的至少八种可变剪接转录本。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2029
ENSEMBL:ENSG00000143420
HGNC:3360
UNIPROT:O43768
OMIM:603061
Basic Information
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MW (kDa)
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2029
8
4
8367 bp
13.39
1
--
6
15
ENSA Genetics information (-)
GRCh38
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* This data comes from NCBI.
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