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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
CYP1B1 - Cytochrome P450 Family 1 Subfamily B Member 1
Alias:
CP1B
ASGD6
GLC3A
CYPIB1
P4501B1
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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。这个基因编码的酶定位在内质网,并代谢原癌物质,如多环芳烃和17β-雌二醇。这个基因的突变与先天性原发性青光眼有关;因此,认为这个酶也可能代谢参与眼睛发育的信号分子,可能是类固醇。[RefSeq,2008年7月提供]
Related ID:
NCBI:1545
ENSEMBL:ENSG00000138061
HGNC:2597
UNIPROT:Q16678
OMIM:601771
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1545
1
3
8643 bp
60.85
284
11
7
40
CYP1B1 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
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Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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