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中文人类
HSD11B1 - Hydroxysteroid 11-beta Dehydrogenase 1
Alias:
HDL
11-DH
HSD11
HSD11B
HSD11L
CORTRD2
SDR26C1
11-beta-HSD1
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这个基因编码的蛋白质是一种微粒体酶，能催化应激激素皮质醇转化为无活性的代谢物皮质酮。此外，该编码蛋白质还能催化反向反应，将皮质酮转化为皮质醇。过多的皮质醇可能导致中枢性肥胖，而该基因的特定变异与儿童肥胖和胰岛素抵抗有关。该基因的突变以及H6PD（6-磷酸葡萄糖脱氢酶（葡萄糖1-脱氢酶））是导致皮质酮还原酶缺乏的原因。交替剪接产生多个转录变异体，编码相同的蛋白质。[RefSeq提供，2011年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HSD11B1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
