DISEASES

Disease-gene associations mined from literature

Literature associating FAM83H and amelogenesis imperfecta

FAM83H [ENSP00000373565]

Family with sequence similarity 83, member H; May play a major role in the structural organization and calcification of developing enamel. May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration.

Synonyms:  FAM83H,  FAM83Hp,  hFAM83H,  Q6ZRV2,  Q6ZRV2p ...

Linkouts:  STRING  Pharos  UniProt  OMIM