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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
B3GALT2 - Beta-1,3-galactosyltransferase 2
Alias:
GLCT2
BETA3GALT2
beta3Gal-T2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
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这个基因是β-1,3-半乳糖转移酶(beta3GalT)基因家族的成员。这个家族编码使用不同的供体底物(UDP-半乳糖和UDP-乙酰氨基葡萄糖)和不同的受体糖(N-乙酰氨基葡萄糖、半乳糖和N-乙酰半乳糖胺)的II型膜结合糖蛋白,具有不同的酶促功能。beta3GalT基因与果蝇的大脑基因(Brainiac)关系疏远,蛋白质编码序列包含在一个单独的外显子中。beta3GalT蛋白质还包含在beta4GalT或alpha3GalT蛋白质中未发现的保守序列。这些酶合成的碳水化合物链被指定为类型1,而beta4GalT酶合成类型2碳水化合物链。在胚胎发育过程中,类型1:类型2链的比例会发生变化。根据序列相似性,beta3GalT基因至少可以分为两组:beta3GalT4和其他4个beta3GalT基因(beta3GalT1-3,beta3GalT5)。这个基因编码一个在N-连接糖蛋白糖基化中发挥作用的蛋白质,并且严格显示对UDP-半乳糖的供体底物特异性。[由RefSeq提供,2008年7月]
Related ID:
NCBI:8707
ENSEMBL:ENSG00000162630
HGNC:917
UNIPROT:O43825
OMIM:603018
Basic Information
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MW (kDa)
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8707
1
2
7884 bp
49.21
16
--
5
6
B3GALT2 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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