Cat. No. | Product Name | Species | Expression System |
---|---|---|---|
TMPJ-01020 |
GFER Protein, Human, Recombinant (His)
Augmenter of liver regenerati... |
Human | E. coli |
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/ER... | |||
TMPY-00368 |
ALR Protein, Human, Recombinant (His)
HPO,ERV1,HERV1,ALR,HSS,HPO2,growth factor, augmenter |
Human | HEK293 Cells |
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. |