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中文人类
CPS1 - Carbamoyl-phosphate Synthase 1
Alias:
PHN
GATD6
CPSASE1
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这个基因编码的线粒体酶催化氨和碳酸氢盐合成氨甲酰磷酸盐。这个反应是尿素循环的第一个承诺步骤，在去除细胞中的过量尿素中非常重要。编码的蛋白质也可能代表核心线粒体核蛋白体蛋白质。已经发现这个基因的三个转录变异体编码不同的异构体。最短的异构体可能不定位到线粒体。这个基因的突变与氨甲酰磷酸合酶缺乏症、对持续性肺高血压的易感性和骨髓移植后静脉闭塞性疾病的易感性有关。[RefSeq,2010年5月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CPS1 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
