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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
ARSF - Arylsulfatase F
Alias:
ASF
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是硫酸酯酶家族的成员,更具体地说,它是芳基硫酸酯酶亚家族的一员。这个亚家族的成员在序列和剪接位点上有相似性,并在染色体X上聚集在一起,表明它们是由最近的基因重复事件衍生而来的。硫酸酯酶对骨骼和软骨基质的正确组成是必不可少的。这种蛋白质的活性与芳基硫酸酯酶E不同,不会被华法林抑制。已经发现了编码相同蛋白质的多种可变剪接变异体。[RefSeq,2011年1月提供]
Related ID:
NCBI:416
ENSEMBL:ENSG00000062096
HGNC:721
UNIPROT:P54793
OMIM:300003
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
416
7
11
72494 bp
65.94
36
--
--
4
ARSF Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
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Mutations
No data available
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Status
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Link
No data available
References Literature
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IF
No Data Found!
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