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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
ALG13 - ALG13 UDP-N-acetylglucosaminyltransferase Subunit
Alias:
CDG1S
DEE36
EIEE36
MDS031
TDRD13
CXorf45
GLT28D1
YGL047W
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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两成分UDP-N-乙酰葡萄糖胺转移酶的亚单位。它与天冬氨酸连接的糖基化14同源物异二聚化,形成具有功能活性的UDP-GlcNAc糖基转移酶,催化内质网N-连接糖基化中高度保守的寡糖前体的第二次糖添加。已发现该基因有多个编码不同异型的转录变异体。[RefSeq提供,2009年12月]
Related ID:
NCBI:79868
ENSEMBL:ENSG00000101901
HGNC:30881
UNIPROT:Q9NP73
OMIM:300776
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79868
45
27
79480 bp
126.06
783
4
7
11
ALG13 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Name
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No data available
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Status
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Link
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References Literature
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