Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach. Using homozygosity mapping, we discovered that a mutation in the GFER gene causes an infantile mitochondrial disorder.
GFER is a hepatotrophic growth factor and flavin-linked sulfhydryl oxidase which belongs to the Erv1 ALR family of proteins. GFER is widely expressed in various human tissues. They are two isoforms of this protein. Isoform 1 could regenerate 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. GFER could also induce the expression of S-adenosylmethionine decarboxyl-ase and ornithine decarboxylases (ODC). S-adenosylmethionine decarboxyl-ase and ornithine decarboxylases play an important role in the synthesis of polyamines.
HER2 ERBB2 Protein, Human, Recombinant (aa 489-630, His) is expressed in HEK293 mammalian cells with His tag. The predicted molecular weight is 17.1 kDa and the accession number is P04626-1.
HER2 ERBB2 Protein, Human, Recombinant (aa 1-195, His) is expressed in HEK293 mammalian cells with His tag. The predicted molecular weight is 20.9 kDa and the accession number is P04626-1.
HER2 ERBB2 Protein, Human, Recombinant (aa 489-630, His), Amine-Labeled Biotinylated is expressed in HEK293 mammalian cells with His tag. The predicted molecular weight is 17.1 kDa and the accession number is AAA75493.1.
HER2 ERBB2 Protein, Human, Recombinant (mFc) is expressed in HEK293 mammalian cells with mFc tag. The predicted molecular weight is 95.75 kDa and the accession number is NP_004439.2.
HER2 ERBB2 Protein, Human, Recombinant (aa 676-1255, His & GST) is expressed in Baculovirus insect cells with His and GST tag. The predicted molecular weight is 92 kDa and the accession number is P04626-1.