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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
B4GALT6 - Beta-1,4-galactosyltransferase 6
Alias:
B4Gal-T6
beta4Gal-T6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
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这个基因是人类中7个β-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-半乳糖的特异性;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在不同糖复合物和糖结构的生物合成中具有独特功能。作为II型膜蛋白,它们具有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。这个基因产生多种蛋白质异构体——其中一些预测缺乏N端疏水信号序列和跨膜结构域。通过序列相似性,beta4GalTs形成四个组:beta4GalT1和beta4GalT2,beta4GalT3和beta4GalT4,beta4GalT5和beta4GalT6,和beta4GalT7。这个基因编码的规范酶是糖脂质生物合成中的重要乳糖酰鞘氨醇合成酶。[由RefSeq,2020年1月提供]
Related ID:
NCBI:9331
ENSEMBL:ENSG00000118276
HGNC:929
UNIPROT:Q9UBX8
OMIM:604017
Basic Information
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9331
10
9
102396 bp
44.91
10
--
4
10
B4GALT6 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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