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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
PRKAB1 - Protein Kinase AMP-activated Non-catalytic Subunit Beta 1
Alias:
AMPK
HAMPKb
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是AMP激活的蛋白激酶(AMPK)的调节亚基。AMPK是一个由alpha催化亚基、非催化性beta亚基和gamma亚基组成的三聚体。AMPK是一种重要的能量感应酶,监测细胞能量状态。响应细胞代谢压力,AMPK被激活,从而磷酸化并失活乙酰辅酶A羧化酶(ACC)和β-羟基β-甲基戊酸辅酶A还原酶(HMGCR),这些是参与调节脂肪酸和胆固醇新生合成的关键酶。这个亚基可能是AMPK活性的正调节剂。已经表明这个亚基的乳脂酰化和磷酸化影响AMPK的酶活性和细胞定位。这个亚基还可以作为适应分子,调节AMPK复合物的关联。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5564
ENSEMBL:ENSG00000111725
HGNC:9378
UNIPROT:Q9Y478
OMIM:602740
Basic Information
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Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
5564
2
7
13668 bp
30.38
6
--
13
19
PRKAB1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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