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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
CYP11B2 - Cytochrome P450 Family 11 Subfamily B Member 2
Alias:
CPN2
ALDOS
CYP11B
CYP11BL
CYPXIB2
P450C18
P-450C18
P450aldo
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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。这种蛋白质定位在线粒体内膜上。该酶具有合成醛固酮和18-氧化皮质醇的类固醇18-羟化酶活性以及类固醇11β-羟化酶活性。这个基因的突变导致皮质酮甲基氧化酶缺乏。[RefSeq,2008年7月提供]
Related ID:
NCBI:1585
ENSEMBL:ENSG00000179142
HGNC:2592
UNIPROT:P19099
OMIM:124080
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1585
1
9
7285 bp
57.56
469
5
11
24
CYP11B2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
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Acting
Regulation
Detail
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Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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