Aliases: FMT1.
MTFMT (mitochondrial methionyl-tRNA formyltransferase) is named by 1 disorder entry.
MTFMT's normal function is to formylate mitochondrial Met-tRNA(Met) for translation initiation. The ai-gene-review layer currently ingested by dismech lists 0 core-function terms for MTFMT: the pinned ingest predates the upstream review of this gene, which is being completed separately, so this page makes no claim about its GO terms yet.
The entry that types MTFMT as causative is Combined Oxidative Phosphorylation Defect Type 15. Its genetic record is causative and the variant origin is recorded as germline. In the entry the gene sits on the node Loss of Mitochondrial Methionyl-tRNA Formyltransferase Activity, which records the loss of formyltransferase activity that generates the mitochondrial initiator fMet-tRNA(Met).
The GO processes annotated on the nodes naming MTFMT number 0, and the number of GO process terms shared with ai-gene-review by exact identifier is 0, which follows from the ingest gap above rather than from a disagreement.
ClinGen classifies MTFMT for 1 disease; none matches the entry's own disease term, so the entry carries no ClinGen tier.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
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 |
|---|---|---|
| Combined Oxidative Phosphorylation Defect Type 15 | causative germline |
mechanism: Loss of Mitochondrial Methionyl-tRNA Formyltransferase Activity
|
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 | Definitive 2020-03-19 |
Leigh Syndrome
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.