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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
AKR1E2 - Aldo-keto Reductase Family 1 Member E2
Alias:
TAKR
hTSP
HTSP1
htAKR
AKRDC1
AKR1CL2
LoopADR
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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醛酮还原酶超家族的一员。这个家族的成员以其结构(进化高度保守的TIM桶)和功能(依赖NAD(P)H的羰基团氧化还原)为特征。这个基因的转录物已经在人类睾丸标本中报道过。可选的剪接导致多个转录变异体。[由RefSeq,2012年8月提供]
Related ID:
NCBI:83592
ENSEMBL:ENSG00000165568
HGNC:23437
UNIPROT:Q96JD6
OMIM:617451
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
83592
8
10
48265 bp
36.59
109
--
3
4
AKR1E2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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