PTPRF

该基因编码的蛋白是蛋白酪氨酸磷酸酶(PTP)家族的成员。众所周知,PTP是调节多种细胞过程的信号分子,包括细胞生长、分化、有丝分裂周期和致癌转化。该PTP具有一个细胞外区、一个跨膜区和两个串联胞质内催化域,因此代表一种受体型PTP。细胞外区包含3个免疫球蛋白样结构域,9个非免疫球蛋白样结构域与神经细胞粘附分子相似。这种PTP在粘附连接处上皮细胞接触的调节以及β-连环蛋白信号的控制中起作用。这种蛋白在肥胖、胰岛素抵抗个体的胰岛素反应组织中的表达水平增加,可能有助于胰岛素抵抗的发病机制。该基因的两个选择性剪接转录变体编码不同的蛋白质,已被报道。
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported.

别名

BNAH2,LAR

基因id

Chromosome:1 Start: 43990858 End: 44089343 Strand: 1

药物

Erlotinib Hydrochloride 

突变与药物

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