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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
PTPRD - Protein Tyrosine Phosphatase Receptor Type D
Alias:
HPTP
PTPD
HPTPD
HPTPDELTA
RPTPDELTA
R-PTP-delta
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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包含一个细胞外区域、一个单跨膜片段和两个串联的细胞内催化域,因此代表一个受体型PTP。这个蛋白质的细胞外区域由三个Ig样和八个纤连蛋白III型样结构域组成。研究鸡和果蝇的相似基因表明,这个PTP的作用是促进神经突生长,并调节神经元轴突引导。已经报道了这个基因的多个可变剪接转录变异体。在染色体5上已经发现了一个相关的假基因。[由RefSeq,2010年1月提供]
Related ID:
NCBI:5789
ENSEMBL:ENSG00000153707
HGNC:9668
UNIPROT:P23468
OMIM:601598
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5789
55
46
2298757 bp
214.76
101
--
6
7
PTPRD Genetics information (-)
GRCh38
Sequence Homology
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Transcripts & Proteins
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* This data comes from NCBI.
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