SSUH2 is a gene located on chromosome 3.1 that plays a critical role in odontogenesis and tooth development. SSUH2 functions as a regulator of dental formation, with mutations causing autosomal-dominant dentin dysplasia type I (DDI), a genetic disorder characterized by pulp chamber obliteration and diminutive root formation 1. The gene is involved in coordinating expression of major odontogenesis regulators including Dspp, Dmp1, Runx2, Pax9, Bmp2, and Dlx2 1. Beyond dental development, SSUH2 has been implicated in muscle physiology; in zebrafish models, SSUH2 mutations stimulate muscle fiber growth, suggesting roles in skeletal muscle development and lean mass regulation 2. The protein localizes to both cytoplasmic and nuclear compartments 1. Functionally, SSUH2 mutations result in reduced mutant protein and mRNA levels, disrupting normal dental morphogenesis 1. Additionally, SSUH2 has undergone positive selection in rough-toothed dolphins, contributing to their specialized enamel morphology 3. Clinically, SSUH2 represents one of three genetically heterogeneous causative genes for dentin dysplasia type I 4, making it a significant target for understanding hereditary dental disease pathogenesis.