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中文人类
HSD3B7 - Hydroxy-delta-5-steroid Dehydrogenase, 3 Beta- And Steroid Delta-isomerase 7
Alias:
CBAS1
PFIC4
SDR11E3
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这个基因编码一种酶，参与从胆固醇合成胆汁酸和短链脱氢酶/还原酶超家族成员。编码的蛋白质是一种膜结合的内质网蛋白质，活性针对7-α羟基化固醇底物。这个基因的突变与先天性胆汁酸合成缺陷有关，导致新生儿胆汁淤积，这是一种进行性肝病的形式。已经发现这个基因有不同的转录变异体，编码不同的异构体。[RefSeq，2008年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HSD3B7 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
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
Detail
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Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
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CAS Number
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Link
References Literature
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