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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
ALDH1A2 - Aldehyde Dehydrogenase 1 Family Member A2
Alias:
DIH4
RALDH2
RALDH2-T
RALDH(II)
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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。这个基因的产物是一种酶,可以催化视黄醛合成视黄酸(RA)。视黄酸是维生素A(视黄醇)的活性衍生物,是一种在发育和成年组织中起作用的激素信号分子。类似的小鼠基因研究提示,这种酶和细胞色素CYP26A1同时建立局部胚胎视黄酸水平,促进后部器官发育并预防脊柱裂。已经在这个基因中鉴定出四种编码不同异型的转录变异体。[RefSeq提供,2011年5月]
Related ID:
NCBI:8854
ENSEMBL:ENSG00000128918
HGNC:15472
UNIPROT:O94788
OMIM:603687
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8854
4
13
112283 bp
56.72
50
1
12
11
ALDH1A2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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