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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
HSD11B2 - Hydroxysteroid 11-beta Dehydrogenase 2
Alias:
AME
AME1
HSD2
HSD11K
SDR9C3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
皮质类固醇11-β脱氢酶至少有两种同工酶,这是一种负责将皮质醇和皮质素相互转换的微粒体酶复合物。I型同工酶具有11-β脱氢酶(皮质醇转化为皮质素)和11-氧还原酶(皮质素转化为皮质醇)活性。II型同工酶,由这个基因编码,只有11-β脱氢酶活性。在醛固酮选择性上皮组织如肾脏中,II型同工酶催化糖皮质激素皮质醇转化为无活性的代谢物皮质素,从而防止矿质皮质素受体的非法激活。在不表达矿质皮质素受体的组织中,如胎盘和睾丸,它保护细胞免受皮质醇的生长抑制和/或促凋亡作用,特别是在胚胎发育过程中。这个基因的突变导致明显的矿质皮质素过多和高血血压综合征。[RefSeq,2010年2月提供]
Related ID:
NCBI:3291
ENSEMBL:ENSG00000176387
HGNC:5209
UNIPROT:P80365
OMIM:614232
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3291
2
5
7753 bp
44.13
84
1
6
26
HSD11B2 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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