Curated summary · agent-written · kb/genes/curated/hgnc_29666.md
All 11 claims checked against the KB draft

MTFMT across dismech

MTFMT (mitochondrial methionyl-tRNA formyltransferase) is named by 1 disorder entry.

Normal function

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.

Disease record

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).

Where the layers meet

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.

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.

DisorderRelationshipWhere the gene appears
Combined Oxidative Phosphorylation Defect Type 15 causative germline
mechanism: Loss of Mitochondrial Methionyl-tRNA Formyltransferase Activity
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 diseaseMOIClassificationdismech 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.