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中文人类
COL1A1 - Collagen Type I Alpha 1 Chain
Alias:
OI1
OI2
OI3
OI4
EDSC
CAFYD
EDSARTH1
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该基因编码I型胶原的前-alpha1链，其三股螺旋由两条alpha1链和一条alpha2链组成。I型胶原是一种形成纤维的胶原，存在于大多数结缔组织中，在骨骼、角膜、真皮和肌腱中丰富。该基因的突变与成骨不全I-IV型、Ehlers-Danlos综合征VIIA型、Ehlers-Danlos综合征经典型、Caffey病和特发性骨质疏松症相关。在染色体17和22之间，该基因和血小板来源的生长因子β基因所在的相互易位与一种特殊的皮肤肿瘤，称为隆突性皮肤纤维肉瘤，相关联，这是由于生长因子表达失控所致。已经发现该基因由于使用交替的聚腺苷酸化信号产生了两种转录本。[由R. Dalgleish，2008年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COL1A1 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
