PAM16 Polyclonal Antibody

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.

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; TIMM16