RMFSL
Chr 7ARBRCA1 associated ATM activator 1
Also known as: BAAT1, C7orf27, NEDCAS, RMFSL
This protein interacts with BRCA1 and ATM proteins in DNA damage response pathways. Mutations cause rigidity and multifocal seizure syndrome, a lethal neonatal disorder affecting the nervous system with onset in the newborn period. The condition follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/RMFSL?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RMFSL · 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 →No open access results found
External Resources
Links to major genomics databases and tools