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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
Pmm2 - phosphomannomutase 2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有磷酸甘露糖突变酶活性。预测参与甘露糖代谢过程和蛋白质N连接糖基化。位于细胞质和神经元细胞体中。在几个结构中表达,包括消化系统;大脑;肝脏;鼻子;和呼吸系统。用于研究先天性糖基化异常I型。此基因的人类同源物与先天性糖基化异常和先天性糖基化异常Ia有关。与人类PMM2(磷酸甘露糖突变酶2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:54128
ENSEMBL:ENSMUSG00000022711
UNIPROT:Q9Z2M7
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
54128
3
9
20006 bp
27.66
10
10
Pmm2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
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Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
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