2024年12月25日 · PARK7 (Parkinsonism Associated Deglycase) is a Protein Coding gene. Diseases associated with PARK7 include Parkinson Disease 7, Autosomal Recessive Early-Onset and Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1. Among its related pathways are Selective autophagy and Metabolism of proteins.

DJ1, also known as Parkinson disease protein 7, is a protein which in humans is encoded by the PARK7 gene. [5] . Its weak glyoxalase activity has been verified by many labs, [6] however the reported protein deglycase activity is likely to be an artifact stemming from DJ-1's ability to destroy free methylglyoxal.

The PARK7 gene provides instructions for making the DJ-1 protein. This protein is found in many tissues and organs, including the brain. Studies indicate that the DJ-1 protein has several functions, although none are fully understood. One of the protein's functions may be to help protect cells, particularly brain cells, from oxidative stress.

该基因的产物属于肽酶 C56 蛋白家族。 它作为雄激素受体依赖性转录的正调节剂。 它也可以作为氧化还原敏感的伴侣，作为氧化应激的传感器，并且它显然可以保护神经元免受氧化应激和细胞死亡。 该基因的缺陷是常染色体隐性遗传性早发性帕金森病 7 的原因。 已为该基因鉴定出编码相同蛋白质的两个转录变体。 [RefSeq 提供，2008 年 7 月] The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor …

2022年1月25日 · Here we report that PARK7, an enzyme mutated in hereditary Parkinson's disease, prevents damage of proteins and metabolites caused by a metabolite of glycolysis. We found that the glycolytic metabolite 1,3-bisphosphoglycerate (1,3-BPG) spontaneously forms a novel reactive intermediate that avidly reacts with amino groups.

Here we report that PARK7, an enzyme mutated in hereditary Parkinson’s disease, prevents damage of proteins and metabolites caused by a metabolite of glycolysis. We found that the glycolytic metabolite 1,3-bisphosphoglycerate (1,3-BPG) spontaneously forms a novel reactive intermediate that avidly reacts with amino groups.

Oxidized PARK7 acts as a co-chaperone-like protein that binds the ER-derived chaperone R-HSPA5, a member of the HSPA/HSP70 family. By forming a complex with PARK7 (and possibly misfolded protein cargoes), R-HSPA5 binds SQSTM1 through its Nt-Arg, facilitating self-polymerization of SQSTM1 and the targeting of SQSTM1-cargo complexes to phagophores.

Mutations in the PD-associated gene PARK7 alter the structure and function of the encoded protein DJ-1, and the resulting autosomal recessively inherited disease increases the risk of developing PD. DJ-1 was first discovered in 1997 as an oncogene and was associated with early-onset PD in 2003.

2025年2月9日 · It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7.

帕金森病7型，常染色体隐性早发型的一个重要基因是PARK7（帕金森病相关去糖基酶），其相关通路/超级通路包括蛋白水解潜在SUMO-1通路。 相关组织包括大脑和皮层，相关表型包括焦虑和僵硬。 该模块正在开发中，请耐心等待我们的数据更新。 Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Structural basis of the Norrin-Frizzled 4 interaction.