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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
PTPRF - Protein Tyrosine Phosphatase Receptor Type F
Alias:
LAR
BNAH2
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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酪氨酸磷酸酶(PTP)家族的一员。PTP被已知为信号分子,可以调节各种细胞过程,包括细胞生长、分化、有丝分裂周期和致癌转化。这个PTP具有一个外在区域、一个单个跨膜区域和两个串联的胞内催化域,因此代表一种受体型PTP。外在区域包含三个Ig样域,以及九个非Ig样域,类似于神经细胞粘附分子。这个PTP被证明在粘附连接处调节上皮细胞细胞接触,以及在控制β-catenin信号传导中发挥作用。在肥胖、胰岛素抵抗个体的胰岛素反应组织中发现了这种蛋白质的表达水平增加,可能有助于胰岛素抵抗的发病机制。这个基因有两种可变剪接转录变体已被报道,它们编码不同的蛋白质。[由RefSeq提供,2008年7月]
Related ID:
NCBI:5792
ENSEMBL:ENSG00000142949
HGNC:9670
UNIPROT:P10586
OMIM:179590
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
5792
35
34
101616 bp
212.88
111
2
5
16
PTPRF Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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