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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
Pomt2 - protein-O-mannosyltransferase 2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
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References Literature
这个基因编码一个属于dolichyl-phosphate-mannose-protein mannosyltransferase家族的整合膜蛋白。编码的酶存在于内质网的膜中。这个蛋白是蛋白质O-甘露糖基转移酶复合物的组成部分,该复合物涉及蛋白质α-肌营养不良蛋白的修饰。人类基因中的突变是不同形式的肌营养不良-肌营养不良蛋白病(MDDG),A2型(也称为Walker-Warburg综合征),B2型和C2型(也称为肢带肌营养不良)的原因。[由RefSeq,2015年9月提供]
Related ID:
NCBI:217734
ENSEMBL:ENSMUSG00000034126
UNIPROT:Q8BGQ4
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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217734
2
21
41108 bp
92.39
5
4
Pomt2 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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