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中文人类
AGA - Aspartylglucosaminidase
Alias:
GA
AGU
ASRG
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这个基因编码一个N-端亲和核(Ntn)蛋白水解家族成员的蛋白质。编码的前原原蛋白在蛋白水解过程中被处理，生成构成成熟酶的α和β链。这种酶参与糖蛋白的N-连接低聚糖的分解代谢。它从N-乙酰葡萄糖胺中的天冬酰胺中切割，作为糖蛋白溶酶体分解的最后步骤之一。这个基因的突变与溶酶体储存疾病阿斯巴甜糖胺尿症有关，导致进行性神经退行性病变。可选的剪接导致多个转录变异体，至少其中一个编码受蛋白水解处理的异构体。[由RefSeq，2015年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AGA 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
