Tpgs1-KO Mouse

Tpgs1, also known as Tubulin polyglutamylase complex1, helps in microtubule polymerization. It is involved in processes like glucose transport, cellular movement, organization of intracellular structure, and intracellular transport [2]. It may also play a role in pathways related to immune synapse formation, TCR signaling, and Wnt signaling regulation [1,5].

In the study of narcolepsy type I, Tpgs1 was among the NT1-specific differentially expressed genes in CD4 T-cell subsets, which are associated with tubulin arrangement and play a role in immune synapse formation and TCR signaling [1]. In a case of polymicrogyria, rare pathological/deleterious variants of Tpgs1 were found among genes involved in the regulation of Wnt signaling, potentially highlighting its contribution to this malformation of cortical development [5]. Also, Tpgs1 was part of the 4-gene signature RISK4LEP that can predict leprosy years before clinical onset [3], and its DNAm at a specific CpG site was associated with body mass index percentile at birth-to-3 years [4].

In summary, Tpgs1 has diverse functions related to microtubule-associated cellular processes. Its role in diseases such as narcolepsy, polymicrogyria, leprosy, and its association with body mass index trajectories showcases its significance in different biological and disease-related contexts. Studies on Tpgs1 contribute to understanding the molecular mechanisms underlying these conditions.