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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
HSD17B3 - Hydroxysteroid 17-beta Dehydrogenase 3
Alias:
EDH17B3
SDR12C2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这是17-酮类固醇脱氢酶的异构体,主要表达在睾丸中,催化睾酮从雄烯二酮转化。它优先使用NADPH作为辅因子。缺乏可能导致男性假两性畸形和乳腺女性化。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3293
ENSEMBL:ENSG00000130948
HGNC:5212
UNIPROT:P37058
OMIM:605573
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3293
1
11
66871 bp
34.52
131
3
5
12
HSD17B3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Abundance
Alphabetical
Cell-specific RNA expression
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
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IF
No Data Found!
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