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中文人类
CYP21A2 - Cytochrome P450 Family 21 Subfamily A Member 2
Alias:
CAH1
CPS1
CA21H
CYP21
CYP21B
P450c21B
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这个基因编码细胞色素P450超家族酶的一员。细胞色素P450蛋白是单加氧酶，催化许多与药物代谢和胆固醇、类固醇和其他脂质合成有关的反应。这个蛋白定位在内质网，并在21位对类固醇进行羟化。其活性是合成类固醇激素所必需的，包括皮质醇和醛固酮。这个基因的突变导致先天性肾上腺增生。一个相关的假基因位于这个基因附近；涉及功能基因和假基因的基因转换事件被认为解释了许多21-羟化酶缺乏症病例。已经发现这个基因的两个转录变异体，编码不同的异构体。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CYP21A2 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
