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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
小鼠
Large1 - LARGE xylosyl- and glucuronyltransferase 1
Alias:
fg
enr
myd
Mbp1
Large
Mbp-1
froggy
BPFD#36
Gyltl1a
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有葡糖醛酸转移酶和木糖基转移酶活性。参与多个过程,包括肌肉细胞细胞内稳态;蛋白质O连接的甘露糖基化;和骨骼肌器官发育。位于细胞内膜界限明确的细胞器中。在神经系统和视网膜中表达。用于研究面肩肱型肌营养不良;肌营养不良-Dystroglycanopathy;和肌营养不良-Dystroglycanopathy型B6。此基因的人类同源物与先天性肌营养不良-Dystroglycanopathy型A6和肌营养不良-Dystroglycanopathy型B6有关。与人类LARGE1(LARGE木糖基和葡糖醛酸转移酶1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:16795
ENSEMBL:ENSMUSG00000004383
UNIPROT:Q9Z1M7
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
16795
5
16
538938 bp
87.96
6
12
Large1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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