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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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ITGA8 - Integrin Subunit Alpha 8
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
整合素是异源二聚跨膜受体蛋白,可调节许多细胞过程,包括细胞粘附、细胞骨架重排和细胞信号通路激活。整合素由α和β亚基组成。该基因编码异源二聚整合素α8β1蛋白的α8亚基。编码的蛋白质是含有多个FG-GAP重复序列的单通过类型1膜蛋白。该重复序列预测会折叠成β螺旋结构。该基因调节间充质细胞招募到上皮结构中,调节细胞间相互作用,并调节感觉和运动神经元的轴突生长。因此,整合素α8β1蛋白在伤口愈合和器官发生中起着重要作用。与这种基因相关的突变已与肾发育不良/缺如1(RHDA1)和几种慢性肾病动物模型相关。交替剪接导致编码不同异构体的多种转录变异体。[由RefSeq,2014年4月提供]
Related ID:
NCBI:8516
ENSEMBL:ENSG00000077943
HGNC:6144
UNIPROT:P53708
OMIM:604063
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8516
3
30
205969 bp
117.47
251
2
8
7
ITGA8 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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