GFER
Chr 16ARgrowth factor, augmenter of liver regeneration
Also known as: ALR, ERV1, HERV1, HPO, HPO1, HPO2, HSS, MMCHD
GFER encodes a FAD-dependent sulfhydryl oxidase that regenerates disulfide bonds in the mitochondrial chaperone CHCHD4/MIA40, which is essential for protein folding in the mitochondrial intermembrane space. Autosomal recessive mutations cause mitochondrial progressive myopathy with congenital cataract and developmental delay, affecting muscle, eye, and neurodevelopmental systems from early life.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GFER · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools