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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
小鼠
Bckdk - branched chain ketoacid dehydrogenase kinase
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活蛋白激酶活性。预测涉及几个过程,包括支链氨基酸分解代谢过程;葡萄糖代谢过程调控;和精子发生。位于线粒体中。在几个结构中表达,包括泌尿系统;心脏;肝脏;肺;和骨骼肌。用于研究自闭症谱系障碍和支链酮酸脱氢酶激酶缺乏症。这个基因的人类同源物与支链酮酸脱氢酶激酶缺乏症有关。与人类BCKDK(支链酮酸脱氢酶激酶)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:12041
ENSEMBL:ENSMUSG00000030802
UNIPROT:O55028
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
12041
1
12
5592 bp
46.59
10
15
Bckdk Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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