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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
IBTK - Inhibitor Of Bruton Tyrosine Kinase
Alias:
BTKI
BTBD26
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
布鲁顿酪氨酸激酶(BTK)是一种在B细胞、巨噬细胞和中性粒细胞中表达的蛋白质酪氨酸激酶。这个基因编码的蛋白质与BTK结合并下调其激酶活性。此外,该编码蛋白质破坏BTK介导的钙动员,并负调控核因子-kappa-B驱动的转录激活。这个基因在染色体18上有一个假基因。可选剪接产生多个编码不同异质体的转录变异体。[由RefSeq,2014年7月提供]
Related ID:
NCBI:25998
ENSEMBL:ENSG00000005700
HGNC:17853
UNIPROT:Q9P2D0
OMIM:606457
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
25998
2
29
77758 bp
150.53
46
--
4
13
IBTK Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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References Literature
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