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中文人类
SGSH - N-sulfoglucosamine Sulfohydrolase
Alias:
HSS
SFMD
MPS3A
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这个基因编码酶磺胺酶；几种参与肝素硫酸酯溶酶体降解的酶之一。这个基因的突变与溶酶体储存疾病粘多糖病III A型（也称为Sanfilippo综合症A型）有关，由于肝素硫酸酯的降解受损而导致的。已经报道了不同大小的转录本，但它们的生物学有效性尚未确定。[由RefSeq，2017年6月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SGSH 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
