GAREM1
Chr 18GRB2 associated regulator of MAPK1 subtype 1
Also known as: C18orf11, FAM59A, GAREM, Gm944
This protein functions as an adapter in epidermal growth factor receptor signaling and promotes activation of the MAPK/ERK pathway to regulate cell proliferation. Mutations cause neurodevelopmental disorder with seizures and brain atrophy, inherited in an autosomal recessive pattern. The gene shows high constraint against loss-of-function variants (LOEUF 0.44), indicating intolerance to protein disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GAREM1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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