Gene TUFT1
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Also known as
Tuftelin 1Overview
TUFT1 (Tuftelin 1) encodes tuftelin, a protein specifically expressed during tooth development and involved in the biomineralization of dental enamel. Tuftelin is one of several enamel matrix proteins secreted by ameloblasts, the specialized cells responsible for enamel formation. This protein plays a crucial role in the initial stages of enamel crystal formation and organization, contributing to the hardness and structural integrity of tooth enamel.Genetic variants in TUFT1 have been associated with amelogenesis imperfecta, a group of inherited disorders affecting enamel formation. Individuals with TUFT1 mutations may present with enamel that is thin, soft, discolored, or prone to rapid wear and breakage. This can lead to increased tooth sensitivity, higher susceptibility to dental caries, and aesthetic concerns. The severity of enamel defects can vary depending on the specific mutation.
Understanding TUFT1 genetics is important for dental health assessment and may guide preventive dental care strategies, including the use of fluoride treatments, dental sealants, and protective restorations. Early identification of individuals at risk can help preserve dental function and quality of life through proactive management.