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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
SRD5A3 - Steroid 5 Alpha-reductase 3
Alias:
S5AR
CDG1P
CDG1Q
KRIZI
S5AR 3
SRD5A2L
SRD5A2L1
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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属于类固醇5-α还原酶家族和polyprenil还原酶亚家族。它参与从睾酮产生雄激素5-α-双氢睾酮(DHT),并维持雄激素-雄激素受体激活途径。这个蛋白质也是将polyprenil转化为dolichol所必需的,dolichol是合成dolichol-链接的单糖和用于蛋白质的N-连接糖基化的寡糖前体所必需的。这个基因的突变与先天性糖基化异常型Iq有关。[RefSeq,2011年3月提供]
Related ID:
NCBI:79644
ENSEMBL:ENSG00000128039
HGNC:25812
UNIPROT:Q9H8P0
OMIM:611715
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79644
4
5
26859 bp
36.52
212
7
6
8
SRD5A3 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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Status
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Link
No data available
References Literature
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No Data Found!
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