功能： disease:Defects in GIGYF2 are the cause of Parkinson disease type 11 (PARK11) [MIM:607688]. Parkinson disease (PD) is a complex, multifactorial disorder that typically manifests after the age of 50 years, although early-onset cases (before 50 years) are known. PD generally arises as a sporadic condition but is occasionally inherited as a simple mendelian trait. Although sporadic and familial PD are very similar, inherited forms of the disease usually begin at earlier ages and are associated with atypical clinical features. PD is characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK11 may show age-dependent penetrance or reduced penetrance.,function:May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors.,sequence caution:Unlikely isoform.,similarity:Belongs to the PERQ family.,similarity:Contains 1 GYF domain.,subunit:Interacts with GRB10.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： cell-cell adherens junction,membrane,
组织表达： Brain,Clones donated by Kazusa DNA Research Inst.,Epithelium,Fetal kidney,K
科研货号： PLA008311
PERQ2 Polyclonal Antibody
Catalog NoPLA008311
Product information
基因名称： GIGYF2 KIAA0642 PERQ2 TNRC15
蛋白名称： PERQ amino acid-rich with GYF domain-containing protein 2 (GRB10-interacting GYF protein 2) (Trinucleotide repeat-containing gene 15 protein)
功能： disease:Defects in GIGYF2 are the cause of Parkinson disease type 11 (PARK11) [MIM:607688]. Parkinson disease (PD) is a complex, multifactorial disorder that typically manifests after the age of 50 years, although early-onset cases (before 50 years) are known. PD generally arises as a sporadic condition but is occasionally inherited as a simple mendelian trait. Although sporadic and familial PD are very similar, inherited forms of the disease usually begin at earlier ages and are associated with atypical clinical features. PD is characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK11 may show age-dependent penetrance or reduced penetrance.,function:May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors.,sequence caution:Unlikely isoform.,similarity:Belongs to the PERQ family.,similarity:Contains 1 GYF domain.,subunit:Interacts with GRB10.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： cell-cell adherens junction,membrane,
组织表达： Brain,Clones donated by Kazusa DNA Research Inst.,Epithelium,Fetal kidney,K
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