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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
AASDHPPT - Aminoadipate-semialdehyde Dehydrogenase-phosphopantetheinyl Transferase
Alias:
ACPS
LYS2
LYS5
CGI-80
AASD-PPT
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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与酿酒酵母的 LYS5 相似,LYS5 是赖氨酸生物合成途径中α-氨基己二酸脱氢酶激活所必需的。酵母α-氨基己二酸脱氢酶将α-生物合成-氨基己二酸半醛转化为α-氨基己二酸。有研究表明,人类基因的缺陷会导致哌啶酸血症。[RefSeq,2008年7月提供]
Related ID:
NCBI:60496
ENSEMBL:ENSG00000149313
HGNC:14235
UNIPROT:Q9NRN7
OMIM:607756
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
60496
1
6
21034 bp
35.78
20
--
4
18
AASDHPPT 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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Name
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