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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
Adsl - adenylosuccinate lyase
Alias:
Adl
Asl
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一种参与腺苷单磷酸(AMP)生物合成并维持肌肉中AMP水平的蛋白质。编码的酶在AMP生物合成过程中通过切割底物琥珀酰氨基咪唑羧酰胺(SAICA)核苷酸产生氨基咪唑羧酰胺(AICA)核苷酸和腺苷琥珀酸,从而产生腺苷酸。在人类中,这个基因与腺苷琥珀酸缺乏症有关,这是一种罕见的常染色体疾病,导致一系列神经症状。与这个基因相关的一个假基因位于X染色体上。[RefSeq,2013年1月提供]
Related ID:
NCBI:11564
ENSEMBL:ENSMUSG00000022407
UNIPROT:P54822
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
11564
1
13
22458 bp
54.87
6
4
Adsl Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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