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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
ALDH2 - Aldehyde Dehydrogenase 2 Family Member
Alias:
ALDM
ALDHI
ALDH-E2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个蛋白质属于醛脱氢酶家族。醛脱氢酶是酒精代谢的主要氧化途径的第二个酶。可以通过其电泳迁移率、动力学特性和亚细胞定位来区分醛脱氢酶的两个主要肝同工型,胞浆和线粒体。大多数高加索人有两个主要同工酶,而大约50%的东亚人具有胞浆同工酶,但没有线粒体同工酶。东亚人急性酒精中毒的频率显著高于高加索人,可能与缺乏催化活性的线粒体同工酶形式有关。具有催化失活形式的个体对乙醛暴露的增加也可能使许多类型癌症的易感性增加。这个基因编码一个线粒体同工型,对乙醛具有较低的Km值,并定位在线粒体基质中。可变剪接产生多个转录变异体,编码不同的同工型。[RefSeq,2016年11月提供]
Related ID:
NCBI:217
ENSEMBL:ENSG00000111275
HGNC:404
UNIPROT:P05091
OMIM:100650
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
217
2
13
50600 bp
56.38
26
2
12
19
ALDH2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Name
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Status
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References Literature
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