MFF
Chr 2ARmitochondrial fission factor
Also known as: C2orf33, EMPF2, GL004
The MFF protein recruits dynamin-1-like protein to mitochondria and peroxisomes to promote fission of these organelles. Biallelic mutations cause autosomal recessive encephalopathy due to defective mitochondrial and peroxisomal fission. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.567), and the disorder primarily affects the central nervous system through disrupted cellular organelle dynamics.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MFF · 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
Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)
NOT YET RECRUITINGStudy to Evaluate the Efficacy and Safety of Satralizumab in FSHD1
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools