C11ORF65
Chr 11chromosome 11 open reading frame 65
Also known as: MFI
The protein acts as an inhibitor of mitochondrial fission by interacting with MFF and preventing DNM1L recruitment to mitochondria, promoting mitochondrial fusion. Mutations cause autosomal recessive spastic paraplegia-76, which presents with progressive spasticity primarily affecting the lower limbs. This gene shows tolerance to loss-of-function variants based on constraint metrics.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
400 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 73 | 0 | 2 | 0 | 75 |
Likely Pathogenic | 22 | 3 | 1 | 0 | 26 |
VUS | 3 | 162 | 32 | 6 | 203 |
Likely Benign | 0 | 6 | 39 | 23 | 68 |
Benign | 0 | 0 | 3 | 0 | 3 |
| Total | 98 | 171 | 77 | 29 | 375 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C11ORF65 · 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