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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
A4GALT - Alpha 1,4-galactosyltransferase (P Blood Group)
Alias:
P1
PK
Gb3S
P(k)
P1PK
A14GALT
A4GALT1
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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催化半乳糖转移到乳糖鞘糖苷以形成血组P的P(k)抗原的神经节苷脂。这个蛋白质是高尔基体中的一种II型膜蛋白,也是合成细菌verotoxins受体的必需成分。已经发现了这个基因的替代剪接转录变异体。[RefSeq,2015年12月提供]
Related ID:
NCBI:53947
ENSEMBL:ENSG00000128274
HGNC:18149
UNIPROT:Q9NPC4
OMIM:607922
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
53947
11
3
29181 bp
40.50
64
2
7
10
A4GALT Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
MGI
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No data available
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CAS Number
Status
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Link
No data available
References Literature
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