Log In|Sign Up
中文人类
ASL - Argininosuccinate Lyase
Alias:
ASAL
Favorite
这个基因编码一个裂解酶1家族的成员。编码的蛋白质形成胞质四聚体，主要催化反氨基琥珀酸可逆水解成精氨酸和延胡索酸，这是肝脏中通过尿素循环去除氨的重要步骤。这个基因的突变导致常染色体隐性遗传病精氨酸琥珀酸尿症，或精氨酸琥珀酸裂解酶缺乏症。一个非转录的假基因也位于染色体22的长臂上。编码不同异型的其他剪接转录变异体已经描述过。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ASL Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
