CGI-136, MAGMAS, Magmas like protein, Mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction, Mitochondria-associated granulocyte macrophage CSF-signaling molecule, Mitochondrial import inner membrane translocase subunit TIM16, PAM16, Presequence translocase-associated motor 16 homolog (S. cerevisiae), Presequence translocated-associated motor subunit PAM16, TIM16, TIM16_HUMAN, TIMM16.
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. [provided by RefSeq, May 2017]
