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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
Sorbs1 - sorbin and SH3 domain containing 1
Alias:
CAP
Sh3d5
SH3P12
mKIAA1296
2310065E01Rik
9530001P15Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个具有酶结合活性、胰岛素受体结合活性和信号受体复合适应器活性的蛋白质。它参与几个过程,包括聚焦粘附组装、生物合成过程的正向调节和葡萄糖导入的正向调节。它在乙酰胆碱受体信号通路的上游或内部发挥作用,并调节骨骼肌乙酰胆碱门控通道的簇集。该基因在几个细胞组件中表达,包括粘附连接、核基质和应力纤维。它是flotillin复合物的一部分。它在几个结构中表达,包括消化系统、中枢神经系统、呼吸系统、感觉器官和骨架。这个基因的人类同源物与肥胖和2型糖尿病有关。它与人类SORBS1(含sorbin和SH3结构域的1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20411
ENSEMBL:ENSMUSG00000025006
UNIPROT:Q62417
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
20411
56
31
221916 bp
143.07
3
19
Sorbs1 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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