FREM1
Chr 9ARADFRAS1 related extracellular matrix 1
FREM1 encodes an extracellular matrix protein required for epidermal adhesion during embryonic development and plays a role in epidermal differentiation. Mutations cause bifid nose with or without anorectal and renal anomalies, Manitoba oculotrichoanal syndrome, and trigonocephaly 2, with both autosomal recessive and autosomal dominant inheritance patterns reported. These conditions primarily affect craniofacial development, with variable involvement of renal and anorectal systems.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FREM1 · 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