FAM83A
Chr 8scaffolding CK1 anchoring protein A
Also known as: BJ-TSA-9, FAM83A
FAM83A encodes a protein that binds to phosphatidylinositol 3-kinase regulatory subunits and protein kinases, and is involved in maintaining mitochondrial function during adipogenesis and epidermal growth factor receptor signaling. Mutations cause amelogenesis imperfecta type IIIA, a disorder of tooth enamel formation, with autosomal dominant inheritance. The gene shows low constraint against loss-of-function variants (LOEUF 1.408), suggesting some tolerance to protein-truncating mutations.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FAM83A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools