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中文人类
AGRN - Agrin
Alias:
CMS8
AGRIN
CMSPPD
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这个基因编码了几种在神经肌肉接头（NMJ）发育中至关重要的蛋白质，这是通过在小鼠敲除研究中确定的。编码的蛋白质包含几个层粘连蛋白G、Kazal型丝氨酸蛋白酶抑制剂和表皮生长因子域。此外，还发生了一些后翻译修饰，以添加糖胺聚糖和二硫键。在一个影响肢带肌肉的先天性肌无力症家族中，发现这个基因的一个突变。可变剪接导致产生多种转录变体，编码不同的等位基因。[由RefSeq提供，2015年3月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AGRN 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
