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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
CP - Ceruloplasmin
Alias:
CP-2
AB073614
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种结合血浆中大部分铜的金属蛋白,并参与Fe(II)转铁蛋白过氧化为Fe(III)转铁蛋白。这个基因的突变导致铜蓝蛋白缺乏症,导致铁的积累和组织损伤,并与糖尿病和神经异常有关。已在这个基因中发现两种转录变异体,一种为蛋白质编码,另一种为非蛋白质编码。[由RefSeq,2012年2月提供]
Related ID:
NCBI:1356
ENSEMBL:ENSG00000047457
HGNC:2295
UNIPROT:P00450
OMIM:117700
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1356
7
19
59416 bp
122.22
813
4
12
24
CP Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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Status
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Link
No data available
References Literature
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No Data Found!
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