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中文人类
CYP27A1 - Cytochrome P450 Family 27 Subfamily A Member 1
Alias:
CTX
CP27
CYP27
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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、类固醇和其他脂质的合成有关的反应。这种线粒体蛋白质氧化胆固醇中间物作为胆汁合成途径的一部分。由于胆固醇转化为胆汁酸是去除体内胆固醇的主要途径，因此这种蛋白质对总体胆固醇稳态非常重要。这个基因的突变导致脑腱黄瘤病，一种罕见的常染色体隐性脂质储存疾病。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CYP27A1 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
