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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
B4GAT1 - Beta-1,4-glucuronyltransferase 1
Alias:
iGAT
iGNT
B3GNT1
B3GNT6
B3GN-T1
MDDGA13
BETA3GNTI
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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β-1,3-N-乙酰葡萄糖胺转移酶家族的一员。这种酶是一种II型跨膜蛋白。它对聚-N-乙酰乳糖胺的合成是必需的,聚-N-乙酰乳糖胺是血型I抗原的决定因素。[由RefSeq,2008年7月提供]
Related ID:
NCBI:11041
ENSEMBL:ENSG00000174684
HGNC:15685
UNIPROT:O43505
OMIM:605517
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11041
1
2
2256 bp
47.12
189
2
4
7
B4GAT1 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
Abundance
Alphabetical
Cell-specific RNA expression
Organ
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Interactions
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Acting
Regulation
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Residues
Reference
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
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IF
No Data Found!
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