FAM3A
Chr XFAM3 metabolism regulating signaling molecule A
Also known as: 2.19, DLD, DXS560S, XAP-7
This gene encodes a cytokine-like protein that may function as a defensin against fungal pathogens and is involved in glucose and lipid metabolism regulation. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.602), but no established Mendelian diseases have been definitively associated with FAM3A mutations in current medical literature. Clinical significance of variants in this gene remains uncertain pending further research.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FAM3A · 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