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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
B3GALT4 - Beta-1,3-galactosyltransferase 4
Alias:
GALT2
GALT4
BETA3GALT4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
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References Literature
这个基因是beta-1,3-半乳糖基转移酶(beta3GalT)基因家族的成员。这个家族编码具有不同酶功能的II型膜结合糖蛋白,使用不同的供体底物(UDP-半乳糖和UDP-N-乙酰葡萄糖胺)和不同的受体糖(N-乙酰葡萄糖胺,半乳糖,N-乙酰乳糖胺)。beta3GalT基因与果蝇的Brainiac基因有遥远的亲缘关系,其蛋白质编码序列包含在单个外显子中。beta3GalT蛋白还含有在beta4GalT或alpha3GalT蛋白中找不到的保守序列。这些酶合成的碳水化合物链被指定为1型,而beta4GalT酶合成2型碳水化合物链。在胚胎发育过程中,1型:2型链的比例发生变化。通过序列相似性,beta3GalT基因至少分为两个组:beta3GalT4和4个其他beta3GalT基因(beta3GalT1-3,beta3GalT5)。这个基因的取向是从着丝粒到端粒,靠近核糖体蛋白S18基因。编码的蛋白质的功能仅限于神经节苷脂糖脂质生物合成的功能。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8705
ENSEMBL:ENSG00000235863
HGNC:919
UNIPROT:O96024
OMIM:603095
Basic Information
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8705
1
1
1703 bp
41.54
13
--
1
6
B3GALT4 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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