Family with Sequence Similarity 83, Member H (FAM83H) Kits ELISA

The protein encoded by FAM83H plays an important role in the structural development and calcification of tooth enamel. De plus, nous expédions FAM83H Anticorps (7) et et beaucoup plus de produits pour cette protéine.

list all ELISA KIts Gène GeneID UniProt
FAM83H 286077 Q6ZRV2
Anti-Souris FAM83H FAM83H 105732 Q148V8
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Catalogue No. Reactivité Sensibilité Gamme Images Quantité Livraison Prix Détails
Humain 3.9 pg/mL 15.6-1000 pg/mL Typical standard curve 96 Tests 15 to 18 Days

Plus Kits ELISA pour FAM83H partenaires d'interaction

Human Family with Sequence Similarity 83, Member H (FAM83H) interaction partners

  1. FAM83H might play a crucial role in CC progression and could act as a novel therapeutic target in CC

  2. the expression of FAM83H is transcriptionally controlled by MYC and the expression of FAM83H is associated with cellular proliferation and invasiveness. In addition, the expression of FAM83H was an independent indicator of poor prognosis of HCC patients.

  3. Mutational analysis of the FAM83H gene identified a novel nonsense mutation.

  4. We identified the novel mutation in FAM83H associated with autosomal dominant hypocalcified AI.

  5. 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.

  6. Evolutionary analysis of FAM83H in vertebrates with implications for human Amelogenesis imperfecta has been presented.

  7. 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.

  8. In hereditary amelogenesis imperfect, our study demonstrates that FAM83H mutations could influence enamel biomineralization and dentine formation.

  9. 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.

  10. 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*)

  11. Mutations in FAM83H and ENAM and related phenotypes were observed in Chinese families with amelogenesis imperfecta.

  12. 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.

  13. nuclear targeting of the truncated FAM83H protein contributes to the severe, generalized enamel phenotype in [autosomal-dominant hypocalcification amelogenesis imperfecta]

  14. the C-terminal portion of FAM83H is required for tooth enamel calcification

  15. a novel nonsense FAM83H mutation (c.1374C 1 A; p.Y458X)causing autosomal dominant hypocalcified amelogenesis imperfecta

  16. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta demonstrate that FAM83H is required for proper dental-enamel calcification.

  17. identified FAM83H nonsense mutations in all eight families with autosomal dominant hypocalcified amelogenesis imperfecta

  18. 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.

  19. 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]

  20. 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.

Mouse (Murine) Family with Sequence Similarity 83, Member H (FAM83H) interaction partners

  1. These findings shed new light on the association of Fam83h and fluorosis and indicated that high fluoride decreased the expression of Fam83h in morphological and cytological development. This may be one of the reasons for the occurrence of fluorosis.

  2. Compared with the control, the Fam83h mutation altered the expression and localization of Fam83h, CK1alpha and beta-catenin in LS8 ameloblasts, inhibited mineralization and down-regulated the expression of mineralization factors.

  3. Findings demonstrate that over-expression of FAM83H in mice does not produce a phenotype in dentine or enamel.

FAM83H profil antigène

Antigen Summary

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).

Gene names and symbols associated with FAM83H

  • family with sequence similarity 83 member H (FAM83H) anticorps
  • family with sequence similarity 83, member H (Fam83h) anticorps
  • family with sequence similarity 83, member Hb (fam83hb) anticorps
  • AA409316 anticorps
  • AI3 anticorps
  • fa03f11 anticorps
  • fam83h anticorps
  • wu:fa03f11 anticorps

Protein level used designations for FAM83H

FAM83H variant 1 , protein FAM83H

286077 Homo sapiens
105732 Mus musculus
565918 Danio rerio
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