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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
ERP27 - Endoplasmic Reticulum Protein 27
Alias:
PDIA8
C12orf46
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码质膜内网(ER)蛋白的蛋白质二硫键异构酶(PDI)家族的成员,该成员不具有催化活性。标准蛋白质具有N端信号序列、两个硫氧还蛋白(TRX)样结构域和C端ER保留序列。可变剪接产生多种转录变异体,编码不同的异构体;其中一些缺乏标准蛋白质中存在的结构域。[由RefSeq,2016年12月提供]
Related ID:
NCBI:121506
ENSEMBL:ENSG00000139055
HGNC:26495
UNIPROT:Q96DN0
OMIM:610642
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
121506
2
7
24499 bp
30.48
14
--
3
6
ERP27 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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Name
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References Literature
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