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中文人类
SUMF1 - Sulfatase Modifying Factor 1
Alias:
FGE
UNQ3037
AAPA3037
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这个基因编码一种酶，通过将底物硫酸酯中的半胱氨酸残基氧化成活性位点3-氧代丙氨酸残基，催化硫酸酯的水解。这种酶也被称为C-α-甲酰甘氨酸。这个基因的突变导致多种硫酸酯酶缺乏症，一种溶酶体储存障碍。可变剪接导致多个转录变异体。[RefSeq, 2009年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SUMF1 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
