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中文人类
ADSL - Adenylosuccinate Lyase
Alias:
ASL
AMPS
ASASE
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这个基因编码的蛋白质属于裂解酶1家族。它是一种参与嘌呤代谢的基本酶，并在新生嘌呤生物合成途径中催化两个非连续反应：将琥珀酰氨基咪唑羧酰胺核糖(SAICAR)转化为氨基咪唑羧酰胺核糖(AICAR)，以及将腺苷琥珀酸(S-AMP)转化为腺苷一磷酸(AMP)。这个基因的突变与腺苷琥珀酸缺乏症(ADSLD)有关，这是一种以精神运动迟缓、癫痫或自闭症特征为标志的疾病。已经发现了这个基因的可变剪接转录变异体。[由RefSeq提供，2015年12月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ADSL Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
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Name
MGI
Strain of Origin
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CAS Number
Status
Phase
Link
References Literature
Title
PMID
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Year
IF
