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中文人类
GLUL - Glutamate-ammonia Ligase
Alias:
GS
GLNS
PIG43
PIG59
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这个基因编码的蛋白质属于谷氨酰胺合成酶家族。它催化谷氨酰胺从谷氨酸和氨在ATP依赖的反应中合成。这个蛋白质在氨和谷氨酸解毒、酸碱平衡、细胞信号传递和细胞增殖中发挥作用。谷氨酰胺是一种丰富的氨基酸，对几种氨基酸、嘧啶和嘌呤的生物合成非常重要。这个基因的突变与先天性谷氨酰胺缺乏症有关，而这个基因的过度表达在一些原发性肝癌样本中观察到。在这个基因的染色体2、5、9、11和12上发现了六个假基因。可选的剪接导致多个转录变异体。[由RefSeq，2014年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GLUL 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
