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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
Col11a1 - collagen, type XI, alpha 1
Alias:
cho
C530001D20Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这种基因编码XI型胶原的alpha-1亚基,是低丰度纤维胶原之一,对正常的胚胎骨骼发育和软骨的粘附特性至关重要。编码的蛋白质与II型胶原的alpha-1亚基结合,形成异源三聚XI型原胶原,然后进行蛋白水解加工。缺乏编码蛋白质的小鼠发育严重的软骨发育异常,并在出生时死亡。[RefSeq提供,2015年12月]
Related ID:
NCBI:12814
ENSEMBL:ENSMUSG00000027966
UNIPROT:Q61245
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
12814
5
67
190473 bp
181.03
4
10
Col11a1 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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