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中文人类
LARGE1 - LARGE Xylosyl- And Glucuronyltransferase 1
Alias:
LARGE
MDC1D
MDDGA6
MDDGB6
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这个基因编码N-乙酰葡萄糖胺基转移酶基因家族的一员。它编码一种参与α-肌营养不良蛋白糖基化的糖基转移酶，可能参与糖蛋白和糖鞘糖脂糖链的合成。它还可能参与重复的二糖单元的添加。这个基因编码的蛋白质是向α-肌营养不良蛋白添加最后的木糖和葡萄糖醛酸的糖转移酶，从而允许α-肌营养不良蛋白结合包括层粘连蛋白211和神经素的配体。这个基因的突变导致几种先天性肌营养不良的形式，其特征是认知障碍和α-肌营养不良蛋白糖基化的异常。这个基因的可变剪接导致编码相同蛋白质的多种转录变异体。[RefSeq,2018年5月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LARGE1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
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
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
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Residues
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Name
MGI
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Link
References Literature
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