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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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人类
GGT1 - Gamma-glutamyltransferase 1
Alias:
GGT
GTG
GGTD
CD224
GGT 1
D22S672
D22S732
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的酶是一种I型γ-谷氨酰转移酶,催化谷胱甘肽的谷氨酰部分转移到各种氨基酸和二肽受体上。该酶由重链和轻链组成,来源于单个前体蛋白。它在参与吸收和分泌的组织中表达,可能参与糖尿病和其他代谢疾病的病因。已经发现了多种可变剪接的变异体。在染色体20和22上存在一些相关的基因,以及染色体2、13和22上这个基因的假定假基因。[由RefSeq,2014年1月提供]
Related ID:
NCBI:2678
ENSEMBL:ENSG00000100031
HGNC:4250
UNIPROT:P19440
OMIM:612346
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2678
3
16
45247 bp
61.41
88
1
8
29
GGT1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
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Name
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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