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中文人类
COL5A1 - Collagen Type V Alpha 1 Chain
Alias:
EDSC
FMDMF
EDSCL1
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这个基因编码一种低丰度纤维胶原的α链。纤维胶原分子是三聚体，可以由一种或多种α链组成。V型胶原存在于含有I型胶原的组织中，并似乎调节由I型和V型胶原组成的异型纤维的组装。这个基因产物与XI型胶原有密切关系，V型和XI型胶原的胶原链可能构成具有组织特异性的链组合的单个胶原类型。编码的前胶原蛋白通常以异源三聚体前-α1(V)-前-α1(V)-前-α2(V)的形式存在。这个基因的突变与埃勒斯-丹洛斯综合症，类型I和II有关。这个基因的可变剪接导致多个转录变异体。[由RefSeq，2013年5月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COL5A1 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
