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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
AKR7A2 - Aldo-keto Reductase Family 7 Member A2
Alias:
AFAR
AKR7
AFAR1
AFB1-AR1
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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属于醛/酮还原酶(AKR)超家族和AKR7家族,参与醛和酮的解毒。AKR7家族由3个基因组成,这些基因位于1号染色体的p臂上。这种蛋白质被认为位于高尔基体中,催化NADPH依赖的琥珀酸半醛还原为内源性神经调质,γ-羟基丁酸。它也可能作为解毒酶,在还原黄曲霉毒素B1和2-羧基苯甲醛中发挥作用。可变剪接导致多种转录变体。[由RefSeq提供,2016年3月]
Related ID:
NCBI:8574
ENSEMBL:ENSG00000053371
HGNC:389
UNIPROT:O43488
OMIM:603418
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8574
3
7
9439 bp
39.59
16
--
6
13
AKR7A2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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No Data Found!
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