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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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PTPRB - Protein Tyrosine Phosphatase Receptor Type B
Alias:
PTPB
HPTPB
VEPTP
HPTP-BETA
R-PTP-BETA
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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是蛋白质酪氨酸磷酸酶(PTP)家族的一员。PTP被认为是调节各种细胞过程的信号分子,包括细胞生长、分化、有丝分裂周期和癌基因转化。这个PTP包含一个胞外结构域,一个单跨膜片段和一个胞内催化域,因此属于受体型PTP。这个PTP的胞外区域由多个纤维连接蛋白型III重复序列组成,已被证明可以与神经元受体和细胞粘附分子如接触蛋白和十筋C相互作用。该蛋白质还被发现与钠通道相互作用,因此可以通过改变酪氨酸磷酸化状态来调节钠通道。该蛋白质的相互作用伙伴的功能暗示了这个PTP在细胞粘附、神经突起生长和神经元分化中的作用。已经发现了这个基因的不同转录变异体,它们编码不同的异构体。[由RefSeq提供,2011年5月]
Related ID:
NCBI:5787
ENSEMBL:ENSG00000127329
HGNC:9665
UNIPROT:P23467
OMIM:176882
Basic Information
NCBI
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Exons
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MW (kDa)
Mutations
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Reference
5787
9
34
121560 bp
224.30
82
--
9
11
PTPRB Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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