Disease-gene associations mined from literature

Literature associating GFER and autosomal recessive osteopetrosis 7

GFER [ENSP00000248114]

Growth factor, augmenter of liver regeneration; 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.

Synonyms:  GFER,  H3BQQ4,  H3BRD2,  H3BRW3,  P55789 ...

Linkouts:  STRING  Pharos  UniProt  OMIM