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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
TMX3 - Thioredoxin Related Transmembrane Protein 3
Alias:
PDIA13
TXNDC10
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种二硫化物异构酶(PDI)家族的成员,这些成员是内质网(ER)蛋白,催化蛋白质折叠和巯基-二硫化物交换反应。这个基因编码的典型蛋白质具有N端ER信号序列,一个催化活性硫氧还蛋白结构域,一个跨膜结构域和一个C端ER保留序列。这个基因在许多组织中表达,但在心和骨骼肌中表达最高。在发育中的小鼠眼中,它在视网膜神经上皮和晶状体上皮中表达,而人类和斑马鱼这个基因的半不足与小眼症有关。可变剪接产生多个转录变异体,编码不同的异构体。[RefSeq,2017年4月提供]
Related ID:
NCBI:54495
ENSEMBL:ENSG00000166479
HGNC:24718
UNIPROT:Q96JJ7
OMIM:616102
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54495
9
16
41421 bp
51.87
50
--
5
10
TMX3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
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Status
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Link
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References Literature
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