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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
CYP8B1 - Cytochrome P450 Family 8 Subfamily B Member 1
Alias:
CP8B
CYP12
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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、类固醇和其他脂质的合成有关的反应。内质网膜蛋白催化7α-羟基-4-胆甾-3-酮转化为7α,12α-二羟基-4-胆甾-3-酮。这两种类固醇之间的平衡决定了胆酸和鹅脱氧胆酸相对量的关系,它们都在胆汁中分泌并影响胆固醇的溶解性。这个基因在细胞色素P450基因中是独特的,因为它没有内含子。[RefSeq,2008年7月提供]
Related ID:
NCBI:1582
ENSEMBL:ENSG00000180432
HGNC:2653
UNIPROT:Q9UNU6
OMIM:602172
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1582
1
1
3688 bp
58.07
27
--
8
5
CYP8B1 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
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
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CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
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IF
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