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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
DHRS9 - Dehydrogenase/reductase 9
Alias:
RDHL
RDH15
RDHTBE
SDR9C4
RDH-TBE
RETSDR8
hRoDH-E2
3ALPHA-HSD
3-alpha-HSD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码短链脱氢酶/还原酶家族的一个成员。编码的蛋白质已被识别为一个月光蛋白,基于其执行功能上不同的能力。这种蛋白质表现出对羟类固醇的氧化还原酶活性,能够在细胞质中将3-α-四氢孕酮转化为二羟孕酮,将3-α-雄甾二醇转化为二羟孕酮,并且可能在细胞核中作为转录抑制因子发挥作用。替代剪接导致多个转录变体。[由RefSeq提供,2014年1月]
Related ID:
NCBI:10170
ENSEMBL:ENSG00000073737
HGNC:16888
UNIPROT:Q9BPW9
OMIM:612131
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10170
7
5
29091 bp
35.23
18
--
5
10
DHRS9 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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No Data Found!
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