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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
PRKAG2 - Protein Kinase AMP-activated Non-catalytic Subunit Gamma 2
Alias:
AAKG
CMH6
WPWS
AAKG2
H91620p
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
AMP激活的蛋白激酶(AMPK)是一种由催化亚基α、非催化亚基β和非催化调节亚基γ组成的三元异源蛋白。这些亚基的各种形式由不同的基因编码。AMPK是一种重要的能量感应酶,通过失活涉及调节脂肪酸和胆固醇新生合成的关键酶来监测细胞能量状态并发挥作用。该基因是AMPKγ亚基家族的成员。与该基因的突变有关的症状包括沃尔夫-帕金森-怀特综合征、家族性肥厚性心肌病和心脏糖原储存病。不同的转录剪接变异体已被表征,编码不同的异构体。[由RefSeq,2015年1月提供]
Related ID:
NCBI:51422
ENSEMBL:ENSG00000106617
HGNC:9386
UNIPROT:Q9UGJ0
OMIM:602743
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
51422
33
16
320989 bp
63.07
978
6
10
22
PRKAG2 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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