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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
Cp - ceruloplasmin
Alias:
D3Ertd555e
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码的蛋白质是一种含铜糖蛋白,可溶性地存在于血清中,并通过GPI锚定在其他组织中。它可以氧化Fe(II)为Fe(III),被认为在铁稳态中扮演重要角色。在人类中,这个基因的突变导致铜蓝蛋白缺乏症,其特征是视网膜变性、糖尿病、贫血和神经症状。在小鼠中,这个基因与其同源基因hephaestin的缺乏相结合会导致视网膜变性,并用作铜蓝蛋白缺乏症和年龄相关性黄斑变性的病理生理模型。可变剪接产生多种编码不同蛋白质异型的转录变异体。[由RefSeq,2013年1月提供]
Related ID:
NCBI:12870
ENSEMBL:ENSMUSG00000003617
UNIPROT:Q61147
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12870
10
19
52818 bp
121.15
12
12
Cp Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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