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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).
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Protein Aliases: FAM83H variant 1; FAM83H variant 2; family with sequence similarity 83, member H; FLJ46072; Protein FAM83H
Gene Aliases: AA409316; AI3; FAM83H; RGD1305866
UniProt ID: (Human) Q6ZRV2, (Mouse) Q148V8
Entrez Gene ID: (Human) 286077, (Rat) 362937, (Mouse) 105732
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