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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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B4GALT2 - Beta-1,4-galactosyltransferase 2
Alias:
B4Gal-T2
B4Gal-T3
beta4Gal-T2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
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这个基因是七个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,似乎对供体底物UDP-半乳糖具有专一性;所有转移半乳糖的β1,4连接到类似的受体糖:GlcNAc、Glc和Xyl。每个β4GalT在不同糖缀合物和糖结构的生物合成中具有不同的功能。作为II型膜蛋白,它们具有N端疏水信号序列,将蛋白质引导到高尔基体,然后保持未切割,作为跨膜锚定。通过序列相似性,β4GalTs形成四个组:β4GalT1和β4GalT2,β4GalT3和β4GalT4,β4GalT5和β4GalT6,以及β4GalT7。这个基因编码的酶在糖脂和糖蛋白中合成N-乙酰乳糖胺。其底物特异性受α-乳白蛋白影响,但不表达在哺乳期乳腺组织中。已发现此基因的三个转录变体,编码两种不同的等位基因。[由RefSeq提供,2011年7月]
Related ID:
NCBI:8704
ENSEMBL:ENSG00000117411
HGNC:925
UNIPROT:O60909
OMIM:604013
Basic Information
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8704
5
7
11962 bp
41.97
19
--
3
8
B4GALT2 Genetics information (+)
GRCh38
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* This data comes from NCBI.
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