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中文人类
NAGLU - N-acetyl-alpha-glucosaminidase
Alias:
NAG
CMT2V
MPS3B
UFHSD
MPS-IIIB
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这个基因编码一种酶，通过水解N-乙酰-D-葡萄糖胺残基来降解硫酸肝素。这个基因的缺陷是导致粘多糖病类型IIIb（MPS-IIIB），也被称为Sanfilippo综合症B。这个疾病的特点是溶酶体累积和硫酸肝素在尿液中的排泄。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NAGLU 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
