MyBioSource.com's PAM16 Polyclonal Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: ELISA, Immunohistochemistry, and Western Blot.
Description
This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities