{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CACNG3 encodes the gamma‐3 subunit of voltage‐dependent calcium channels and belongs to the stargazin family, a group of transmembrane proteins that are implicated in modulating ion channel function as well as regulating AMPA receptor trafficking. In human brains, CACNG3 (γ3) displays a distinct distribution pattern with high expression in the cerebral cortex and amygdala, suggesting a role in modulating excitatory synaptic transmission and neuronal signaling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Genetic studies have implicated this gene as a susceptibility locus in childhood absence epilepsy, with linkage and association analyses highlighting variants within regulatory regions of CACNG3 that may alter its expression and contribute to epileptogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In addition, robust associations between CACNG3 polymorphisms and age‐related macular degeneration have been identified, positioning it as a strong candidate gene in the risk architecture of this complex retinal disorder."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Differential expression analyses in Alzheimer’s disease further reveal that CACNG3 is part of a small cohort of ion transport–related genes that show altered levels in affected brain regions, indicating that disrupted CACNG3 expression may contribute to the dysregulation of neuronal ion homeostasis in neurodegenerative conditions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Moreover, network‐based studies in glioblastoma have identified CACNG3 as a core molecule within ionic signaling pathways, suggesting that aberrant expression of this subunit might play a role in tumor biology and potentially serve as a prognostic marker."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In spinocerebellar ataxia type 2, elevated levels of the CACNG3 protein have been directly correlated with calcium‐mediated Purkinje cell apoptosis, linking its dysregulation to neurodegenerative cell death and associated cognitive deficits."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Finally, integrative statistical analyses aimed at cancer driver gene discovery have identified CACNG3 as a novel candidate, further underscoring its emerging significance in disease pathogenesis across multiple systems."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Fraser J Moss, Annette C Dolphin, Jeffrey J Clare "}, {"type": "b", "children": [{"type": "t", "text": "Human neuronal stargazin-like proteins, gamma2, gamma3 and gamma4; an investigation of their specific localization in human brain and their influence on CaV2.1 voltage-dependent calcium channels expressed in Xenopus oocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Neurosci (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2202-4-23"}], "href": "https://doi.org/10.1186/1471-2202-4-23"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14505496"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14505496"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Kate V Everett, Barry Chioza, Jean Aicardi, et al. 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