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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
ST3GAL3 - ST3 Beta-galactoside Alpha-2,3-sialyltransferase 3
Alias:
ST3N
DEE15
MRT12
SIAT6
EIEE15
ST3GALII
ST3GalIII
ST3Gal III
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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一种II型膜蛋白,它催化 CMP-唾液酸到含半乳糖底物的转移。编码的蛋白质通常在高尔基体中发现,但可以被蛋白酶加工成可溶性形式。这种蛋白质是糖基转移酶家族29的成员。这个基因的突变已被关联到一种常染色体隐性非综合征性认知障碍以及婴儿癫痫性脑病。这个基因发现了多个转录变体,编码了几个不同的等位基因。[由RefSeq提供,2017年7月]
Related ID:
NCBI:6487
ENSEMBL:ENSG00000126091
HGNC:10866
UNIPROT:Q11203
OMIM:606494
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6487
50
12
223624 bp
42.17
318
6
4
5
ST3GAL3 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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