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中文人类
COL2A1 - Collagen Type II Alpha 1 Chain
Alias:
AOM
ANFH
SEDC
STL1
COL11A3
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这个基因编码II型胶原的α1链，这是一种在软骨和眼睛玻璃体中发现的纤维胶原。这个基因的突变与软骨发育不全、软骨发育异常、早发家族性骨关节炎、SED先天性异常、Langer-Saldino软骨发育不全、Kniest发育异常、Stickler综合征I型和spondyloepimetaphyseal发育异常Strudwick型有关。此外，处理软骨钙蛋白缺陷也与软骨发育异常有关，软骨钙蛋白是一种作为该胶原分子C前肽的钙结合蛋白。这个基因有两个转录本。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COL2A1 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
