Anti-FAM83H antibody [EPR12542]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

FAM83H also known as Family with Sequence Similarity 83 Member H is a protein with a mass of approximately 127 kDa. This protein is found mainly in dental tissues including ameloblasts where it plays a role in enamel formation. Its expression can also be detected in other tissues indicating its importance beyond enamel mineralization. FAM83H-localized at the cell membrane involves interactions with other proteins contributing to cellular processes.

Biological function summary

FAM83H acts as an important player in the mineralization of enamel. It may not seem like it but during enamel development FAM83H ensures proper structural integrity and stability of the enamel matrix. FAM83H is not a part of any complex but associates with other proteins such as casein kinase 1 which phosphorylates it regulating its activity in the amelogenesis process. By maintaining normal enamel development FAM83H aids in dental health and disease prevention.

Pathways

FAM83H functions in processes related to enamel formation and dental tissue development. This protein associates with the Wnt signaling pathway important for regulating cell proliferation and differentiation in various tissues. FAM83H interacts with proteins like Axin an important component of the Wnt pathway modulating cell signaling for proper tooth development. Wnt pathway's influence is detectable in many biological processes confirming FAM83H's role in maintaining essential signaling networks within cells.

Associated diseases and disorders

FAM83H mutations link to amelogenesis imperfecta a disorder characterized by defective enamel formation. This condition can lead to issues such as abnormal tooth appearance and increased susceptibility to dental caries. FAM83H mutations alter gene functionality impacting its interaction with proteins like casein kinase 1. Another disease associated with FAM83H is Ehlers-Danlos syndrome though this connection is less direct but noteworthy involving extracellular matrix proteins. Understanding FAM83H’s involvement in these disorders aids in the development of diagnostic and therapeutic strategies.