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中文人类
COL6A2 - Collagen Type VI Alpha 2 Chain
Alias:
UCMD1
BTHLM1
PP3610
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这个基因编码VI型胶原的三条α链之一，VI型胶原是一种在大多数结缔组织中发现的有珠状纤维胶原。这个基因的产物包含几个与von Willebrand因子A型结构域相似的结构域。这些结构域已被证明可以结合细胞外基质蛋白，这种相互作用解释了这种胶原在组织基质成分中的重要性。这个基因的突变与Bethlem肌病和Ullrich硬肌强直性肌营养不良有关。已经在这个基因中发现了三种转录变异体。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COL6A2 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
