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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
AKR1A1 - Aldo-keto Reductase Family 1 Member A1
Alias:
ALR
ARM
DD3
ALDR1
HEL-S-6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码了一个醛/酮还原酶超家族的成员,该家族包含超过40种已知的酶和蛋白质。这个成员,也被称为醛还原酶,参与生物性和异源性醛的还原,并存在于几乎所有的组织中。这个基因存在多种可变剪接转录变体,都编码相同的蛋白质。[由RefSeq提供,2011年1月]
Related ID:
NCBI:10327
ENSEMBL:ENSG00000117448
HGNC:380
UNIPROT:P14550
OMIM:103830
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10327
7
9
19224 bp
36.57
12
--
6
17
AKR1A1 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
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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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
Title
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Journal
Year
IF
No Data Found!
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