MyBioSource.com's Anti-ALR Antibody, Rabbit Polyclonal is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: EIA, Immunoassay, ELISA, Immunohistochemistry, and Immunohistochemistry - fixed. The Anti-ALR Antibody, Rabbit Polyclonal was generated using GFER as the antigen and it reacts with Human.
Description
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