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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
TMX1 - Thioredoxin Related Transmembrane Protein 1
Alias:
TMX
TXNDC
PDIA11
TXNDC1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个二硫化物异构酶(PDI)家族的成员,这个家族是内质网(ER)蛋白,负责催化蛋白质折叠和巯基-二硫化物交换反应。编码的蛋白质具有N端ER信号序列,一个具有催化活性的硫氧还蛋白结构域,和一个跨膜结构域。与这个基因家族的大部分成员不同,它缺乏C端的ER保留序列。成熟的膜结合蛋白质既能氧化又能还原二硫键,并有选择性地作用于膜相关多肽。[RefSeq,2017年1月提供]
Related ID:
NCBI:81542
ENSEMBL:ENSG00000139921
HGNC:15487
UNIPROT:Q9H3N1
OMIM:610527
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
81542
1
8
17409 bp
31.79
12
--
6
27
TMX1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Type
Name
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Mutations
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CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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