Recombinant Human Protein FAM83H (FAM83H), partial

1. results suggest that amelogenesis imperfecta caused by the FAM83H mutation is mediated by the disorganization of the keratin cytoskeleton and subsequent disruption of desmosomes in ameloblasts. PMID: 27222304
2. Evolutionary analysis of FAM83H in vertebrates with implications for human Amelogenesis imperfecta has been presented. PMID: 28683132
3. 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. PMID: 26142250
4. In hereditary amelogenesis imperfect, our study demonstrates that FAM83H mutations could influence enamel biomineralization and dentine formation. PMID: 25487982
5. 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. PMID: 23902688
6. 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*) PMID: 23355523
7. Mutations in FAM83H and ENAM and related phenotypes were observed in Chinese families with amelogenesis imperfecta. PMID: 22414746
8. 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. PMID: 21702852
9. nuclear targeting of the truncated FAM83H protein contributes to the severe, generalized enamel phenotype in [autosomal-dominant hypocalcification amelogenesis imperfecta] PMID: 21118793
10. the C-terminal portion of FAM83H is required for tooth enamel calcification PMID: 18484629
11. a novel nonsense FAM83H mutation (c.1374C 1 A; p.Y458X)causing autosomal dominant hypocalcified amelogenesis imperfecta PMID: 20160442
12. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta demonstrate that FAM83H is required for proper dental-enamel calcification. PMID: 18252228
13. identified FAM83H nonsense mutations in all eight families with autosomal dominant hypocalcified amelogenesis imperfecta PMID: 19220331
14. Affected individuals having truncating FAMH3H mutations of 677 or fewer amino acids presented a generalized autosomal-dominant hypocalcified amelogenesis imperfecta phenotype. A unique and previously unreported phenotype is also described. PMID: 19407157
15. A novel nonsense mutation (c.1354C>T, p.Q452X) was identified in the last exon of FAM83H, which resulted in soft, uncalcified enamel [in amelogenesis imperfecta] PMID: 19825039
16. Fam83h localizes in the intracellular environment, is associated with vesicles, and plays an important role in dental enamel formation. FAM83H is the first gene involved in the etiology of amelogenesis imperfecta that does not encode a secreted protein. PMID: 19828885

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HGNC: 24797

OMIM: 130900

KEGG: hsa:286077

STRING: 9606.ENSP00000373565

UniGene: Hs.67776