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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
CYP24A1 - Cytochrome P450 Family 24 Subfamily A Member 1
Alias:
CP24
HCAI
CYP24
HCINF1
P450-CC24
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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。这个线粒体蛋白通过侧链的羟基化起始1,25-二羟基维生素D3的降解,1,25-二羟基维生素D3是维生素D3的生理活性形式。在调节维生素D3的水平时,这个酶在钙稳态和维生素D内分泌系统中发挥作用。已经发现这个基因的不同剪接转录变异体,它们编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:1591
ENSEMBL:ENSG00000019186
HGNC:2602
UNIPROT:Q07973
OMIM:126065
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1591
9
12
30449 bp
58.88
284
2
5
14
CYP24A1 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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Acting
Regulation
Detail
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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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