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.
Immunogen Information
Immunogen
Fusion protein of human PAM16
Swissprot
Q9Y3D7
Synonyms
CGI-136MAGMASMagmas like proteinMitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transductionMitochondria-associated granulocyte macrophage CSF-signaling moleculeMitochondrial import inner membrane t