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中文人类
EOGT - EGF Domain Specific O-linked N-acetylglucosamine Transferase
Alias:
AOS4
AER61
EOGT1
C3orf64
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这个基因编码一种在内质网腔内活动的酶，催化N-乙酰葡萄糖胺转移到细胞外靶向蛋白的丝氨酸或苏氨酸残基上。这种酶修饰包含真核生长因子（EGF）样结构域的蛋白质，包括Notch受体，从而调节发育信号传导。在这个基因中发现的突变已在患有Adams-Oliver综合征4的患者中观察到。可变剪接导致多个转录变异体。[RefSeq，2015年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
EOGT Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
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Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Alphabetical
Cell-specific RNA expression
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Name
MGI
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References Literature
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