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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
GNMT - Glycine N-methyltransferase
Alias:
HEL-S-182mP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种酶,它催化S-腺苷-L-甲硫氨酸(与甘氨酸一起)转化为S-腺苷-L-高半胱氨酸和肌氨酸。这个蛋白质存在于细胞质中,并以同源四聚体形式存在。这个基因的缺陷是导致GNMT缺乏(高甲硫氨酸血症)的原因。可变剪接导致多个转录变异体。自然发生的读穿转录发生在上游CNPY3(树冠FGF信号调节子3)基因和这个基因之间,具有GeneID:107080644。[由RefSeq,2016年1月提供]
Related ID:
NCBI:27232
ENSEMBL:ENSG00000124713
HGNC:4415
UNIPROT:Q14749
OMIM:606628
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27232
2
6
3127 bp
32.74
75
1
5
12
GNMT Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
Organ
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Interactions
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Type
Name
MGI
Strain of Origin
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CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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