EGFL6
Chr XEGF like domain multiple 6
Also known as: MAEG, W80
The protein is a secreted member of the epidermal growth factor repeat superfamily that binds integrin alpha-8/beta-1 and promotes matrix assembly during hair follicle morphogenesis. This gene is extremely intolerant to loss-of-function variation (pLI ~1.0), but no Mendelian diseases have been definitively associated with EGFL6 mutations in humans. Current evidence suggests this gene may be essential for normal development, but additional research is needed to establish clear genotype-phenotype correlations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EGFL6 · 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