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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
STIL - STIL Centriolar Assembly Protein
Alias:
SIL
MCPH7
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与有丝分裂纺锤丝检查点调节相关的胞质蛋白,该检查点是一个监测细胞分裂过程中染色体分离的调节途径,以确保染色体正确分配给子代细胞。该蛋白在有丝分裂过程中以及响应纺锤丝检查点的激活而被磷酸化,当细胞过渡到G1期时消失。它与其他有丝分裂调节物相互作用,其表达对于有效地激活纺锤丝检查点是必需的。据推测,它在纺锤丝检查点停止期间调节Cdc2激酶的活性。染色体缺失将这个基因和相邻的基因座融合,通常发生在T细胞白血病中,被认为是通过非法V-(D)-J重组事件产生的。已经发现这个基因有不同的转录变异体,编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6491
ENSEMBL:ENSG00000123473
HGNC:10879
UNIPROT:Q15468
OMIM:181590
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
6491
54
17
64758 bp
142.96
341
8
2
24
STIL Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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