The glutamate receptor, metabotropic 1, also known as GRM1, is a human gene which encodes the metabotropic glutamate receptor 1 (mGluR1) protein. [5][6][7] L - Glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors.

2024年12月25日 · GRM1 (Glutamate Metabotropic Receptor 1) is a Protein Coding gene. Diseases associated with GRM1 include Spinocerebellar Ataxia, Autosomal Recessive 13 and Spinocerebellar Ataxia 44. Among its related pathways are Sensory perception of taste and GPCR downstream signalling.

与人类 GRM1（谷氨酸代谢受体 1）直系同源。 [由基因组资源联盟提供，2022 年 4 月] Enables G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration. Involved in several processes, including positive regulation of MAPK cascade; regulation of sensory perception of pain; and sensory perception of pain.

we report the third pathogenic variant in GRM1 gene causing an autosomal-recessive form of cerebellar ataxia. Our observation not only emphasizes the central role of mGluR1-mediated signaling in cerebellar function but also provides valuable insights into the early clinical signs of recessive ataxia due to biallelic GRM1 pathogenic variants.

we report the third pathogenic variant in GRM1 gene causing an autosomal-recessive form of cerebellar ataxia. Our observation not only emphasizes the central role of mGluR1-mediated signaling in cerebellar function but also provides valuable insights into the early clinical signs of recessive ataxia due to biallelic GRM1 pathogenic variants.

2012年10月22日 · We hypothesize that inappropriate glutamatergic signaling in other cell types can dysregulate growth leading to transformation and tumorigenesis. As most cancers are carcinomas, we selected an...

2024年9月12日 · Clinical resource with information about GRM1, Autosomal recessive spinocerebellar ataxia 13, Spinocerebellar ataxia 44, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Activation of GRM1 results in the release of glutamate from neurons and melanoma cells, setting up paracrine feedback loops that enhance GRM1-activation and signal transduction (9, 14). In preclinical studies we found that inhibition of GRM1 signaling in vitro and in vivo results in a G2/M cell cycle arrest and subsequent apoptosis in human ...

该基因编码一种代谢型谷氨酸受体，该受体通过激活磷脂酶 C 发挥作用。 L-谷氨酸是中枢神经系统中主要的兴奋性神经递质，可激活离子型和代谢型谷氨酸受体。 谷氨酸能神经传递涉及正常大脑功能的大多数方面，并且在许多神经病理学状况下可能受到干扰。 编码蛋白的典型 alpha 亚型是二硫键连接的同型二聚体，其活性由 G 蛋白偶联的磷脂酰肌醇-钙第二信使系统介导。 该基因可能与许多疾病状态有关，包括精神分裂症、双相情感障碍、抑郁症和乳腺癌。 可变剪接导致编码不 …

Our findings unequivocally demonstrate that direct targeting of GRM1 is a necessary and highly specific driver event for CMF development. Glutamate receptors are well-known actors in the central and peripheral nervous systems, and altered glutamate signaling is implicated in several neurological and psychiatric disorders.