GFER
Function
Isoform 1
FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with GFER/ERV1, resulting in regeneration of the essential disulfide bonds in CHCHD4/MIA40, while GFER/ERV1 becomes re-oxidized by donating electrons to cytochrome c or molecular oxygen.
Isoform 2
May act as an autocrine hepatotrophic growth factor promoting liver regeneration.
Involvement in disease
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay
MPMCD
A disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle.
Cellular localization
- Isoform 1
- Mitochondrion intermembrane space
- Mitochondrion
- Isoform 2
- Cytoplasm
- Secreted
Alternative names
ALR, HERV1, HPO, GFER, FAD-linked sulfhydryl oxidase ALR, Augmenter of liver regeneration, Hepatopoietin, hERV1