GFER Human Recombinant Protein

The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]

GFER: 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. Defects in GFER are a cause of mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD); also called combined mitochondrial complex deficiency. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; EC 1.8.3.2; Oxidoreductase

Chromosomal Location of Human Ortholog: 16p13.3-p13.12

Cellular Component: mitochondrion; cytoplasm; extracellular region; mitochondrial intermembrane space

Molecular Function: protein binding; FAD binding; growth factor activity; thiol oxidase activity; protein disulfide oxidoreductase activity

Biological Process: cellular protein metabolic process; protein targeting to mitochondrion

Disease: Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay