MFF

Chr 2AR

mitochondrial fission factor

Also known as: C2orf33, EMPF2, GL004

NCBI Gene: 56947 ENSG00000168958 UniProt: Q9GZY8 OMIM: 614785

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Encephalopathy due to defective mitochondrial and peroxisomal fission 2MIM #617086

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

179

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.57

LOEUF

LOF

Mechanism· G2P

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