Isoform 1: FAD-dependent sulfhydryl oxidase. Within the mitochondrial intermembrane space, participates in a chain of disulfide exchange reactions with MIA40, that generate disulfide bonds in a number of resident proteins with twin Cx3C and Cx9C motifs. Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration.
Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle.
Involvement in disease
Defects in GFER are a cause of mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD) [MIM:613076]; also called combined mitochondrial complex deficiency.
Contains 1 ERV/ALR sulfhydryl oxidase domain.
Mitochondrion intermembrane space and Cytoplasm. Secreted.