FAM83H アクチベーター

FAM83H, also known as Family with Sequence Similarity 83 Member H, is a protein that has garnered attention due to its link to a form of inherited dental disease called Amelogenesis Imperfecta (AI). This condition affects the enamel formation of teeth, leading to abnormal tooth enamel that is prone to rapid wear and breakage. The FAM83H gene, which encodes for the FAM83H protein, is one of the genetic loci identified in association with the autosomal dominant form of this disorder.

The molecular function of FAM83H is not fully understood, but it is believed to be involved in key cellular processes. Studies suggest that FAM83H may play a role in the regulation of cell proliferation and differentiation, which are critical for proper enamel formation. The protein possesses a domain architecture that is unique to the FAM83 family, including a highly conserved N-terminal domain, which may be implicated in its functional activities.FAM83H has been identified in the enamel organ of developing teeth, indicating its direct relevance to enamel formation. Mutations in the FAM83H gene can lead to the production of a dysfunctional protein, which disrupts the normal development of enamel.