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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
COL1A2 - Collagen Type I Alpha 2 Chain
Alias:
OI4
EDSCV
EDSARTH2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码I型胶原的前α2链,其三股螺旋由两个α1链和一个α2链组成。I型胶原是形成纤维的胶原,存在于大多数结缔组织中,在骨骼、角膜、真皮和肌腱中丰富。这个基因的突变与成骨不全I-IV型、Ehlers-Danlos综合征VIIB型、隐性Ehlers-Danlos综合征经典型、特发性骨质疏松症和非典型Marfan综合征相关。然而,这个基因的突变导致的症状往往比I型胶原α1链基因(COL1A1)的突变轻,反映了α2链在基质完整性中的不同作用。已经在这个基因中识别出三种转录本,这些转录本是通过使用替代的聚腺苷酸化信号产生的。[由R. Dalgleish于2008年2月提供]
Related ID:
NCBI:1278
ENSEMBL:ENSG00000164692
HGNC:2198
UNIPROT:P08123
OMIM:120160
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1278
1
52
36333 bp
129.31
1725
18
15
75
COL1A2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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