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中文人类
HGSNAT - Heparan-alpha-glucosaminide N-acetyltransferase
Alias:
RP73
HGNAT
MPS3C
TMEM76
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这个基因编码溶酶体的乙酰转移酶，这是参与硫酸肝素溶酶体降解的几种酶之一。这个基因的突变与Sanfilippo综合症C型有关，这是一种溶酶体储存疾病粘多糖贮积症III型，由于硫酸肝素的降解受损而导致的。[由RefSeq，2009年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HGSNAT 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
