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The protein encoded by FAM83H plays an important role in the structural development and calcification of tooth enamel. Additionally we are shipping and FAM83H Kits (1) and many more products for this protein.
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Evolutionary analysis of FAM83H in vertebrates with implications for human Amelogenesis imperfecta has been presented.
FAM83H missense mutation reported in one of the 3 Chilean families analyzed in this study might cause a phenotype of hypocalcified enamel more attenuated with retention of amelogenin (show AMELX Antibodies).
In hereditary amelogenesis imperfect, our study demonstrates that FAM83H mutations could influence enamel biomineralization and dentine formation.
Results suggest keratin cytoskeleton organization is regulated by FAM83H recruitment of CK-1alpha to keratins, and keratin filament disassembly caused by overexpression of FAM83H and localization of CK-1alpha contribute to the progression of colorectal cancer.
amelogenesis imperfecta-causing mutations were identified in three of the probands: 3)a previously described nonsense transition mutation in a single allele of FAM83H (c.1379G>A; g.5663G>A; p.W460*)
Mutations in FAM83H and ENAM (show ENAM Antibodies) and related phenotypes were observed in Chinese families with amelogenesis imperfecta.
This study reports on a novel FAM83H nonsense mutation, p.Y302X, in a Danish five-generation family with autosomal dominant hypocalcified amelogenesis imperfect. The phenotypic variation in the affected family members with this mutation was limited.
nuclear targeting of the truncated FAM83H protein contributes to the severe, generalized enamel phenotype in [autosomal-dominant hypocalcification amelogenesis imperfecta]
the C-terminal portion of FAM83H is required for tooth enamel calcification
a novel nonsense FAM83H mutation (c.1374C 1 A; p.Y458X)causing autosomal dominant hypocalcified amelogenesis imperfecta
Findings demonstrate that over-expression of FAM83H in mice does not produce a phenotype in dentine or enamel.
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).
FAM83H variant 1
, protein FAM83H