MFF

mitochondrial fission factor

1 disorder 1 causative 2q36.3 gene with protein product

HGNC:24858 Monarch NCBI Gene 56947 ENSG00000168958 UniProt Q9GZY8 OMIM 614785

Previous symbols: C2orf33. Aliases: GL004.

Curated summary · agent-written · kb/genes/curated/hgnc_24858.md

All 9 claims checked against the KB draft

MFF across dismech

MFF (mitochondrial fission factor) is named by 1 disorder entry.

Normal function

The ai-gene-review snapshot the KB ingests has no core function terms for MFF (0); a review is being added upstream that treats MFF as the outer-membrane DRP1 receptor and activator for mitochondrial and peroxisomal division.

Disease records

The one entry types MFF as causative: Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2, with a germline variant origin. MFF sits on the node MFF Loss of Function.

Where the layers disagree

ClinGen classifies MFF for 2 diseases. One of them, encephalopathy due to mitochondrial and peroxisomal fission defect, has no dismech entry under that MONDO identifier. Whether that term and the EMPF2 entry's own MONDO term name the same disease has not been settled in the KB, so no ClinGen tier is recorded on the EMPF2 entry.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	causative germline loss of function	mechanism: MFF Loss of Function

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Leigh syndrome MONDO:0009723	AR	Moderate 2021-04-09	Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1 not named Leigh Syndrome not named
encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0054865	AR	Moderate 2024-06-21	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.