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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
ALG5 - ALG5 Dolichyl-phosphate Beta-glucosyltransferase
Alias:
PKD7
bA421P11.2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码糖基转移酶2家族的一员。编码的蛋白质参与蛋白质N连接糖基化中的寡甘露糖核心的葡萄糖基化。向寡甘露糖核心添加葡萄糖残基是确保底物识别并因此将寡甘露糖核心有效地转移到新生糖蛋白所必需的。已经发现这个基因的多个转录变异体编码不同的异构体。[由RefSeq,2008年11月提供]
Related ID:
NCBI:29880
ENSEMBL:ENSG00000120697
HGNC:20266
UNIPROT:Q9Y673
OMIM:604565
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
29880
3
10
49630 bp
36.95
13
2
3
10
ALG5 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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