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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
ARSG - Arylsulfatase G
Alias:
USH4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于硫酸酯酶家族。硫酸酯酶水解硫酸化的甾类化合物、碳水化合物、蛋白聚糖和糖脂中的硫酸酯。它们参与激素生物合成、细胞信号调节和大分子降解。这个蛋白质在酸性pH下显示芳基硫酸酯酶活性,这是溶酶体硫酸酯酶的典型特点,并已证明其定位在溶酶体中。已发现这个基因的替代剪接转录变异体。[RefSeq,2012年6月提供]
Related ID:
NCBI:22901
ENSEMBL:ENSG00000141337
HGNC:24102
UNIPROT:Q96EG1
OMIM:610008
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
22901
43
12
192850 bp
57.06
394
3
5
9
ARSG 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
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Reference
Score
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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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