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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
STS - Steroid Sulfatase
Alias:
ES
ASC
XLI
ARSC
SSDD
ARSC1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个定位在内质网的多跨膜蛋白,属于硫酸酯酶家族,水解作为雌激素、雄激素和胆固醇代谢前体的几种3-β-羟基固醇硫酸盐。这个基因的突变与X连锁鱼鳞病(XLI)有关。这个基因的不同启动子导致的可变剪接转录变异已经得到描述(PMID:17601726)。[RefSeq,2016年3月提供]
Related ID:
NCBI:412
ENSEMBL:ENSG00000101846
HGNC:11425
UNIPROT:P08842
OMIM:300747
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
412
7
11
207352 bp
65.49
88
1
1
16
STS 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
Reset
Acting
Regulation
Detail
Mechanism
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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