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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
B4GALT3 - Beta-1,4-galactosyltransferase 3
Alias:
beta4Gal-T3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
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这个基因是七个beta-1,4-半乳糖转移酶(beta4GalT)基因之一。它们编码II型膜结合糖蛋白,似乎具有专一对底物UDP-半乳糖的亲和力;所有转移的半乳糖都以β1,4键与类似的受体糖:GlcNAc、Glc和Xyl连接。每个beta4GalT在生物合成不同糖复合物和糖苷结构的生物合成中具有独特的功能。作为II型膜蛋白,它们具有一个N-端疏水信号序列,将蛋白质导向高尔基体,然后保持不切割以作为跨膜锚定功能。通过序列相似性,beta4GalTs形成四个组:beta4GalT1和beta4GalT2、beta4GalT3和beta4GalT4、beta4GalT5和beta4GalT6、和beta4GalT7。这个基因编码的酶可能主要参与聚-N-乙酰基乳糖胺链的第一个N-乙酰基乳糖胺单位的合成。已经发现这个基因的多个可变剪接转录变异体编码相同的蛋白质。[由RefSeq,2010年12月提供]
Related ID:
NCBI:8703
ENSEMBL:ENSG00000158850
HGNC:926
UNIPROT:O60512
OMIM:604014
Basic Information
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Exons
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MW (kDa)
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8703
11
8
6659 bp
43.93
15
1
3
7
B4GALT3 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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