From the Research
The TBCE gene plays a critical role in microtubule formation and is associated with several rare genetic disorders, including hypoparathyroidism-retardation-dysmorphism syndrome and Kenny-Caffey syndrome, as reported in a recent study 1. The TBCE gene encodes the tubulin-specific chaperone E protein, which is essential for proper microtubule formation in cells. This gene plays a critical role in helping tubulin proteins fold correctly and assemble into microtubules, which are key components of the cellular cytoskeleton. Mutations in the TBCE gene are associated with several rare genetic disorders, including hypoparathyroidism-retardation-dysmorphism syndrome (also known as Sanjad-Sakati syndrome) and Kenny-Caffey syndrome. These conditions typically present with growth delays, intellectual disability, facial abnormalities, and problems with calcium regulation due to hypoparathyroidism. The TBCE gene is located on chromosome 1q42.3 in humans. The protein it produces works alongside other chaperone proteins to ensure that alpha and beta tubulin subunits properly fold and pair together to form functional microtubules, which are essential for cellular structure, division, and intracellular transport. Disruptions in this process due to TBCE mutations can lead to widespread cellular dysfunction, explaining the multi-system effects seen in associated disorders, as demonstrated by a study that identified patients with a novel, milder TBCE-associated phenotype 1. Some key points to consider include:
- The TBCE gene is crucial for microtubule formation and is associated with several rare genetic disorders.
- Mutations in the TBCE gene can lead to disruptions in microtubule formation, resulting in widespread cellular dysfunction.
- The TBCE gene is located on chromosome 1q42.3 in humans and produces a protein that works alongside other chaperone proteins to ensure proper microtubule formation.
- Recent studies have identified novel, milder TBCE-associated phenotypes, highlighting the complexity of TBCE-related disorders 1. It is essential to consider the most recent and highest-quality studies when evaluating the role of the TBCE gene in human disease, such as the study published in 2024 1.