Gphn

Enables molybdopterin molybdotransferase activity. Involved in molybdopterin cofactor biosynthetic process and neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within Mo-molybdopterin cofactor biosynthetic process and synapse organization. Located in several cellular components, including inhibitory synapse; postsynaptic density; and synaptic membrane. Is active in GABA-ergic synapse and postsynaptic specialization, intracellular component. Is expressed in several structures, including central nervous system and retina. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin). [provided by Alliance of Genome Resources, Nov 2024]本数据集旨在促进钼黄素钼转移酶的活性。参与钼黄素辅因子的生物合成过程以及神经递质受体在突触后特化膜上的定位。该酶在钼黄素钼辅因子生物合成过程及突触组织过程中发挥上游或内部作用。分布于多个细胞成分中，包括抑制性突触、突触后密度和突触膜。在GABA能突触和突触后特化、细胞内成分中表现出活性。在多个结构中表达，包括中枢神经系统及视网膜。该基因的人源同源物与遗传代谢疾病及钼辅因子缺乏症C型相关。与人类GPHN（gephyrin）同源。[由基因组资源联盟提供，2024年11月]

搜集汇总

背景与挑战

背景概述

Gphn基因编码的蛋白质具有钼蝶呤钼转移酶活性，主要参与钼蝶呤辅因子的生物合成以及神经递质受体在突触后膜的定位过程。该基因在抑制性突触和GABA能突触中活跃，与人类GPHN基因同源，其功能异常与遗传性代谢疾病及钼辅因子缺乏症C型相关，体现了其在神经系统功能和代谢调节中的关键作用。