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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
小鼠
Col11a2 - collagen, type XI, alpha 2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码XI型胶原的α-2亚基,是软骨中发现的低丰度纤维胶原之一。编码的蛋白质与其他胶原亚基结合,形成异源三聚XI型原胶原,可能经历类似于α-1亚基的蛋白水解加工。缺乏编码蛋白质的小鼠表现出类似于非眼Stickler综合征、otospondylomegaepiphyseal发育不良(OSMED)以及非综合征性耳聋的轻度表型,称为DFNA13。可变剪接产生多个编码不同异形体的转录变异体。[由RefSeq提供,2015年12月]
Related ID:
NCBI:12815
ENSEMBL:ENSMUSG00000024330
UNIPROT:Q64739
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12815
13
66
28198 bp
171.53
5
3
Col11a2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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