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中文人类
COMP - Cartilage Oligomeric Matrix Protein
Alias:
MED
CTS2
EDM1
EPD1
TSP5
PSACH
THBS5
TSP-5
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这个基因编码的蛋白质是一种非胶原蛋白，属于细胞外基质（ECM）蛋白质。它由五个相同的糖蛋白亚基组成，每个亚基都具有EGF样结构和钙结合（类似血栓素）结构域。通过形成五股螺旋状螺旋和二硫键实现寡聚化。与其他ECM蛋白质（如胶原蛋白）的结合似乎依赖于二价阳离子。5个氨基酸重复序列的收缩或扩张以及其他突变可能导致假软骨发育异常（PSACH）和多发性骨骺发育异常（MED）。[由RefSeq，2016年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COMP 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
