Aliases:This biomarker is also known as:
- protein FAM83H,
- FAM83H variant 1,
- family with sequence similarity 83, member H,
FAM83H is a member of the FAM83 family and 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). Lack of a recognizable signal peptide indicates that the protein functions within the cell. It is expressed in the tooth follicle.
There are no datasets associated with this biomarker.
The following organs have data associated with this biomarker…
|QA State:||Under Review|
FAM83H (FLJ46072) exhibited higher expression in ovarian cancer relative to normal tissues. The expression data is based on whole tissue analysis.
FAM83H (FLJ46072) was one of 13 genes out of 50 selected for further validation in PMID:21617380. Average expression of FAM83H was significantly higher in epithelial ovarian cancer tumors than any other normal tissue tested.
- HGNC entry for FAM83H from Genenames
- KEGG entry for FAM83H from Genome.jp
- Entrez entry for FAM83H all NCBI Databasese
- Human GEO Profiles for FAM83H from NCBI GEO Profiles
- Human Geo Datasets containing term FAM83H from NCBI GEO Datasets
- GWAS Study Datasets containing gene FAM83H from GWAS
- Human Single Nucleotide Polymorphisms info for FAM83H
- Human Gene(s) with 'FAM83H' as Gene Name/Alias
- Human Gene RefSeq for FAM83H from NCBI
- GeneCards entry for human FAM83H
- UniProtKB/Swiss-Prot entry for FAM83H from Uniprot
- Human Protein RefSeq for FAM83H from NCBI
- FDA web page describing approval of FAM83H
|UniProt Accession #:||Q6ZRV2|
|Mutated Sites Count:||157|
|Associated Pubmed ID Count||18|
|Affected Protein Function Sites Count:||5|