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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
CSK - C-terminal Src Kinase
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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涉及多个途径,包括调节Src家族激酶。它通过与蛋白酪氨酸磷酸酶非受体类型22(PTPN22)基因编码的蛋白质结合,在T细胞激活中扮演重要角色。这个蛋白质还可以磷酸化多个底物的C端酪氨酸残基,包括SRC原癌基因编码的非受体酪氨酸激酶基因。磷酸化抑制Src家族酪氨酸激酶的激酶活性。这个基因中的内含子多态性(rs34933034)已被发现影响B细胞激活,并与系统性红斑狼疮(SLE)有关。可选的剪接导致多个转录变异体。[RefSeq,2017年8月提供]
Related ID:
NCBI:1445
ENSEMBL:ENSG00000103653
HGNC:2444
UNIPROT:P41240
OMIM:124095
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
1445
13
13
21118 bp
50.70
6
--
11
27
CSK Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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