Fam83h, with no commonly mentioned aliases in the provided references, is a gene with functions that are still being elucidated. It has been associated with multiple biological processes. Truncation mutations in FAM83H are the sole cause of autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI), a dental enamel disorder [1]. It has also been shown to interact with casein kinase 1 (CK1) and keratins, mediating the organization of keratin cytoskeletons and desmosomes, and might act as a scaffold protein to anchor CK1s [1].

Fam83h knockout and mutation-knock-in mouse models have provided insights into its function. In Fam83hQ396⁎/Q396⁎ male mice generated by CRISPR/Cas9 technology, the mutation led to skeletal development retardation, specifically mandible underdevelopment. This was due to increased cytoplasmic CK1α, which promoted β-CATENIN degradation in the cytoplasm, reducing its translocation into the nucleus and inhibiting the Wnt/β-catenin signaling in osteoblast differentiation [2].

In conclusion, Fam83h plays a role in both dental enamel formation and skeletal development, as revealed by model-based research. The Fam83h knockout and knock-in mouse models have contributed significantly to understanding its role in diseases like ADHCAI and skeletal development disorders, highlighting its importance in these biological processes and disease areas [1,2].

References:

1. Wang, S K, Zhang, H, Hu, C Y, Simmer, J P, Hu, J C C. 2020. FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta. In Journal of dental research, 100, 293-301. doi:10.1177/0022034520962731. https://pubmed.ncbi.nlm.nih.gov/33034243/

2. He, Zhenru, Wang, Xin, Zheng, Xueqing, He, Hong, Song, Yaling. 2023. Fam83h mutation causes mandible underdevelopment via CK1α-mediated Wnt/β-catenin signaling in male C57/BL6J mice. In Bone, 172, 116756. doi:10.1016/j.bone.2023.116756. https://pubmed.ncbi.nlm.nih.gov/37028581/