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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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人类
B3GALT1 - Beta-1,3-galactosyltransferase 1
Alias:
beta3Gal-T1
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Basic Information
Sequence Homology
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这个基因是β-1,3-半乳糖转移酶(beta3GalT)基因家族的一员。这个家族编码使用不同供体底物(UDP-半乳糖和UDP-乙酰氨基葡萄糖)和不同受体糖(N-乙酰氨基葡萄糖、半乳糖和N-乙酰半乳糖胺)具有不同酶活性的II型膜结合糖蛋白。beta3GalT基因与果蝇的大脑基因(Brainiac)关系疏远,且具有一个单独的外显子编码蛋白质编码序列。beta3GalT蛋白还包含在beta4GalT或alpha3GalT蛋白中未发现的保守序列。这些酶合成的糖链被指定为类型1,而beta4GalT酶合成类型2糖链。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)。这个基因在大脑中特异性表达。编码的蛋白质对UDP-半乳糖具有严格的供体底物特异性。[由RefSeq提供,2008年7月]
Related ID:
NCBI:8708
ENSEMBL:ENSG00000172318
HGNC:916
UNIPROT:Q9Y5Z6
OMIM:603093
Basic Information
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8708
5
5
581045 bp
37.99
10
--
2
5
B3GALT1 Genetics information (+)
GRCh38
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* This data comes from NCBI.
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