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中文人类
GATM - Glycine Amidinotransferase
Alias:
AT
RFS
AGAT
FRTS
CCDS3
FRTS1
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这个基因编码一种属于氨基转移酶家族的线粒体酶。这种酶参与肌酸生物合成，催化L-精氨酸到甘氨酸的胍基转移，产生胍乙酸，肌酸的直接前体。这个基因的突变导致精氨酸:甘氨酸氨基转移酶缺陷，这是一种肌酸合成的先天性错误，以认知障碍、语言障碍和行为障碍为特征。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GATM 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
