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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
ACADSB - Acyl-CoA Dehydrogenase Short/branched Chain
Alias:
ACAD7
SBCAD
2-MEBCAD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
短链/分支链酰基辅酶A脱氢酶(ACADSB)是酰基辅酶A脱氢酶家族的一员,该家族催化脂肪酸或分支链氨基酸代谢中酰基辅酶A衍生物的脱氢作用。底物特异性是定义该基因家族成员的主要特征。ACADSB基因产物对短链/分支链酰基辅酶A衍生物(S)-2-甲基丁酰辅酶A具有最高的活性,但与其他2-甲基分支链底物以及短直链酰基辅酶A也有显著反应。cDNA编码线粒体前体蛋白,在线粒体导入后切割,预测产生约43.7-KDa的成熟肽。[由RefSeq,2008年7月提供]
Related ID:
NCBI:36
ENSEMBL:ENSG00000196177
HGNC:91
UNIPROT:P45954
OMIM:600301
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
36
2
11
49285 bp
47.48
284
1
3
16
ACADSB Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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