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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
ERP44 - Endoplasmic Reticulum Protein 44
Alias:
PDIA10
TXNDC4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个位于内质网(ER)蛋白的蛋白二硫键异构酶(PDI)家族的成员。它具有推测的N端信号肽,一个具有催化活性的硫氧还蛋白(TRX)结构域,两个TRX样结构域和一个C端ER保留序列。这个蛋白作为分泌途径的pH调节型分子伴侣,可能在内质网-高尔基体界面处的蛋白质质量控制中发挥作用。[由RefSeq,2016年12月提供]
Related ID:
NCBI:23071
ENSEMBL:ENSG00000023318
HGNC:18311
UNIPROT:Q9BS26
OMIM:609170
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23071
1
12
119816 bp
46.97
11
--
8
14
ERP44 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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