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中文人类
HSD3B2 - Hydroxy-delta-5-steroid Dehydrogenase, 3 Beta- And Steroid Delta-isomerase 2
Alias:
HSDB
HSD3B
SDR11E2
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这个基因编码的蛋白质是一种双功能酶，催化delta(5)-烯-3-beta-羟基类固醇的氧化转化和酮甾类的氧化转化。它在所有类别的激素甾类生物合成中扮演着关键角色。这个基因主要在肾上腺和性腺中表达。这个基因的突变与3-beta-羟甾脱氢酶类型II缺乏症有关。已经发现了这个基因的可变剪接转录变异体。[由RefSeq，2009年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HSD3B2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
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Score
Related Mouse Models
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Name
MGI
Strain of Origin
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CAS Number
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References Literature
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