GFM1

Chr 3q25.32

G elongation factor mitochondrial 1

Aliases:: EFGM, GFM, EGF1, mtEF-G1
MANE:: ENST00000486715.6

OMIM: 606639 ↗NCBI: 85476 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GFM1 · Q96RP9

v62025-08-01

Predicted Aligned Error matrix for GFM1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.1/ 100

Confident

751 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)53%
Low(50–70)6%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Inherited white matter disorders
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
0.78
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
0.77
neurodegenerative disease
0.46
combined oxidative phosphorylation deficiency
0.45
hereditary disease
0.34
Leigh syndrome
0.31
heart failure
0.13
Relative macrocephaly
0.12
Severe muscular hypotonia
0.12
Developmental regression
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Elongation factor G, mitochondrial

Mitochondrial GTPase that catalyzes the GTP-dependent ribosomal translocation step during translation elongation. During this step, the ribosome changes from the pre-translocational (PRE) to the post-translocational (POST) state as the newly formed A-site-bound peptidyl-tRNA and P-site-bound deacylated tRNA move to the P and E sites, respectively. Catalyzes the coordinated movement of the two tRNA molecules, the mRNA and conformational changes in the ribosome. Does not mediate the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis