Aliases for FAM83H Gene
External Ids for FAM83H Gene
Previous GeneCards Identifiers for FAM83H Gene
The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]
GeneCards Summary for FAM83H Gene
FAM83H (Family With Sequence Similarity 83 Member H) is a Protein Coding gene. Diseases associated with FAM83H include Amelogenesis Imperfecta, Type Iiia and Hypocalcified Amelogenesis Imperfecta. An important paralog of this gene is FAM83B.
UniProtKB/Swiss-Prot for FAM83H Gene
May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688).