Pnkd
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1618392
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Predicted to enable hydroxyacylglutathione hydrolase activity and metal ion binding activity. Acts upstream of or within modulation of chemical synaptic transmission; neuromuscular process controlling posture; and regulation of dopamine metabolic process. Located in mitochondrion. Is active in presynaptic cytosol. Is expressed in central nervous system and retina. Used to study paroxysmal nonkinesigenic dyskinesia 1. Human ortholog(s) of this gene implicated in paroxysmal nonkinesigenic dyskinesia 1. Orthologous to human PNKD (PNKD metallo-beta-lactamase domain containing). [provided by Alliance of Genome Resources, Nov 2024]
该基因预测具有羟基酰基谷胱甘肽水解酶活性和金属离子结合活性。其在化学突触传递的调节作用中发挥上游作用或位于其中;参与控制姿势的神经肌肉过程;以及多巴胺代谢过程的调控。定位于线粒体中。在突触前细胞质中具有活性。在中央神经系统及视网膜中表达。用于研究突发性非运动源性舞蹈病1型。与突发性非运动源性舞蹈病1型相关的基因同源物。与人类PNKD(含PNKD金属β-内酰胺酶结构域)同源。[由基因组资源联盟提供,2024年11月]
提供机构:
Rat Genome Database



