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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
人类
MPP7 - MAGUK P55 Scaffold Protein 7
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是膜相关鸟苷酸激酶(MAGUK)蛋白质的p55 Stardust家族成员,该家族成员在上皮细胞极性的建立中发挥作用。这个家族成员与极性蛋白DLG1(discs,large homolog 1)形成复合物,促进上皮细胞极性和紧密连接的形成。这个基因的多态性与特定部位的骨密度(BMD)变化相关。可变剪接导致多个转录变异体。[RefSeq,2015年12月提供]
Related ID:
NCBI:143098
ENSEMBL:ENSG00000150054
HGNC:26542
UNIPROT:Q5T2T1
OMIM:610973
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
143098
14
17
284211 bp
65.52
29
--
3
12
MPP7 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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