Aliases:This biomarker is also known as:
- family with sequence similarity 83, member H,
- FAM83H variant 1,
- protein FAM83H,
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.
|UniProt Accession #:||Q6ZRV2|
|Mutated Sites Count:||157|
|Associated Pubmed ID Count||18|
|Affected Protein Function Sites Count:||5|