EMPF1
Chr 12ADARdynamin 1 like
Also known as: DLP1, DRP1, DVLP, DYMPLE, EMPF, EMPF1, HDYNIV, OPA5
The encoded protein is a dynamin superfamily GTPase that mediates mitochondrial and peroxisomal division and is involved in developmentally regulated apoptosis and programmed necrosis. Mutations cause lethal encephalopathy due to defective mitochondrial and peroxisomal fission, affecting the nervous system with severe neurological manifestations. The condition can be inherited in either autosomal dominant or autosomal recessive patterns.
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/EMPF1?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
EMPF1 · 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