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中文人类
EFEMP2 - EGF Containing Fibulin Extracellular Matrix Protein 2
Alias:
MBP1
UPH1
FBLN4
ARCL1B
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大量细胞外基质蛋白被发现含有表皮生长因子（EGF）结构域的变异，并与凝血、补体激活和发育过程中细胞命运决定等不同的功能有关。这个基因编码的蛋白质含有四个EGF2结构域和六个钙结合EGF2结构域。这个基因对弹性纤维的形成和结缔组织的发育是必需的。这个基因的缺陷是导致常染色体隐性松弛皮肤综合征的原因。已经发现了这个基因的可变剪接转录变异体。[RefSeq，2011年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
EFEMP2 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
