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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
AKR1C2 - Aldo-keto Reductase Family 1 Member C2
Alias:
DD
DD2
TDD
BABP
DD-2
DDH2
HBAB
HAKRD
MCDR2
SRXY8
DD/BABP
AKR1C-pseudo
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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aldo/keto还原酶超家族的一员,该超家族由40多种已知的酶和蛋白质组成。这些酶使用NADH和/或NADPH作为辅因子,将醛和酮转化为它们相应的醇。这些酶具有重叠但不同的底物特异性。这个酶以高亲和力结合胆汁酸,并显示最小的3-α-羟类固醇脱氢酶活性。这个基因与其他三个基因成员具有高度的序列一致性,并与这些基因在染色体10p15-p14处聚类。已经发现这个基因的三个转录变异体编码两个不同的异构体。[RefSeq,2011年12月提供]
Related ID:
NCBI:1646
ENSEMBL:ENSG00000151632
HGNC:385
UNIPROT:P52895
OMIM:600450
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1646
7
9
30226 bp
36.73
70
1
11
20
AKR1C2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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