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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
LFNG - LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Alias:
SCDO3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是糖基转移酶31基因家族的成员。这个基因家族的成员还包括MFNG(GeneID:4242)和RFNG(GeneID:5986)基因,它们编码在Notch信号通路中起作用的保守糖基转移酶,在胚胎发育过程中定义边界。虽然它们的基因组结构与其他糖基转移酶不同,但这些蛋白质具有特定的β-1,3-N-乙酰葡萄糖胺转移酶活性,导致Notch上的O-连接岩藻糖残基延长,从而改变Notch信号。这个基因编码的蛋白质预测是单通过类型的II型高尔基膜蛋白,但它也可能像小鼠和果蝇中的相关蛋白质一样分泌并被蛋白水解处理(PMID:9187150)。这个基因的突变与常染色体隐性脊柱骨发育异常3有关。[由RefSeq提供,2018年5月]
Related ID:
NCBI:3955
ENSEMBL:ENSG00000106003
HGNC:6560
UNIPROT:Q8NES3
OMIM:602576
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3955
4
8
16649 bp
41.77
214
3
12
9
LFNG Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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