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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
HSD3B1 - Hydroxy-delta-5-steroid Dehydrogenase, 3 Beta- And Steroid Delta-isomerase 1
Alias:
HSD3B
HSDB3
HSDB3A
SDR11E1
3BETAHSD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种酶,它催化delta-5-3-beta-羟基类固醇前体氧化转化为delta-4-酮类固醇,从而产生所有类别的类固醇激素。编码的蛋白质还催化3-beta-羟基-和3-酮-5-alpha-雄甾烷甾醇之间的互变异构。[由RefSeq,2016年6月提供]
Related ID:
NCBI:3283
ENSEMBL:ENSG00000203857
HGNC:5217
UNIPROT:P14060
OMIM:109715
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3283
2
4
7856 bp
42.25
29
--
1
9
HSD3B1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
MGI
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Mutations
No data available
Related Drugs
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CAS Number
Status
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References Literature
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No Data Found!
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