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中文人类
SERPINI1 - Serpin Family I Member 1
Alias:
PI12
HNS-S1
HNS-S2
neuroserpin
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这个基因编码丝氨酸蛋白酶抑制子serpin超家族的一员。这种蛋白质主要是在大脑中的轴突中分泌，并且优先与组织型血浆酶原激活物反应并对其进行抑制。被认为在调节轴突生长和突触可塑性的发育中起作用。这个基因的突变导致家族性脑病伴神经丝蛋白包含体（FENIB），这是一种以累积突变神经丝蛋白聚积物为特征的家族性脑病和癫痫的显性遗传形式。已经识别出多种可变剪接的变异体，它们编码相同的蛋白质。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SERPINI1 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
