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中文人类
GAMT - Guanidinoacetate N-methyltransferase
Alias:
PIG2
CCDS2
TP53I2
HEL-S-20
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这个基因编码的蛋白质是一种使用S-腺苷甲硫氨酸作为甲基供体的甲基转移酶，将胍乙酸转化为肌酸。这个基因的缺陷与神经系统症状和肌肉松弛有关，可能是由于受影响个体脑内肌酸缺乏和胍乙酸积累所致。这个基因有两个编码不同异型的转录变异体。这个基因的假基因位于染色体2和13上。[RefSeq，2012年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GAMT 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
