基因名称(Gene Name)
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)
免疫原
Synthesized peptide derived from human protein . at AA range: 1071-1120
特异性
PERQ2 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
14-3-3 protein beta/alpha (Protein 1054;Protein kinase C inhibitor protein 1;KCIP-1) [Cleaved into: 14-3-3 protein beta/alpha, N-terminally processed]
背景
GRB10 interacting GYF protein 2(GIGYF2) Homo sapiens This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013],
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
