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中文人类
COL22A1 - Collagen Type XXII Alpha 1 Chain
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这个基因编码胶原蛋白家族的成员，被认为有助于稳定肌腱连接并在收缩活动期间增强骨骼肌附着。它属于胶原超家族中的纤维相关胶原（FACIT）亚类，通过其C端胶原结构域与胶原纤维结合，并通过其N端非胶原结构域调节蛋白质间相互作用。编码的蛋白质沉积在肌腱连接的基底膜区域，仅存在于肌肉、肌腱、心脏、关节软骨和皮肤的组织连接处。敲除斑马鱼正交所编码的基因会导致肌营养不良，通过破坏肌键连接。[RefSeq,2017年5月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COL22A1 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
