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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
小鼠
Aass - aminoadipate-semialdehyde synthase
Alias:
LKR
LOR
SDH
Lorsdh
LKR/SDH
LOR/SDH
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个双功能线粒体蛋白,可以催化赖氨酸降解途径的前两个步骤。N端含有赖氨酸-酮戊二酸还原酶活性,将赖氨酸转化为糖密啶,而C端含有糖密啶脱氢酶活性,将糖密啶转化为α-氨基己二酸半醛。人类中编码一个非常相似蛋白的基因的突变与家族性高赖氨酸血症有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:30956
ENSEMBL:ENSMUSG00000029695
UNIPROT:Q99K67
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
30956
1
24
60814 bp
102.97
4
11
Aass Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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