FAM83H [SEP] found in taxon
exons.
Gene Expression.
FAM83H is ubiquitously expressed throughout the human body at relatively low levels.
Gene Transcript Variants.
In humans, there is only one known major product of the FAM83H gene.
Homology.
Homology Paralogs.
There are no paralogs of FAM83H
Homology Orthologs.
Below is a table of a variety of orthologs of the human FAM83H. The table include closely, intermediately and distantly related orthologs.
Orthologs of the human protein FAM83H are listed above in descending order or date of divergence and then ascending
. There is a transmembrane domain from 231-252.
Protein Subcellular Localization.
Protein FAM83H is targeted to the nucleus.
Protein Interacting Proteins.
FAM83H was found to interact with WDR72 and MMP20. MMP20 is responsible for the breakdown of extracellular matrix and plays a role in tissue remodeling in ameloblasts. mutations in WDR72 is thought to play a role in amelogenesis imperfecta
Clinical Significance.
Clinical Significance Disease Association.
People who suffer from amelogenesis imperfecta have lost function in FAM83H.