{"symbol":"PAM16","synonyms":["TIMM16","CGI-136","SMDMDM","TIM16","MAGMAS"],"name":"presequence translocase-associated motor 16 homolog (S. cerevisiae)","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. [provided by RefSeq, May 2017]","ncbiEntrezGeneId":51025,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/51025","proteins":[{"symbol":"TIM16_HUMAN","href":"/api/1.0/protein/TIM16_HUMAN"}],"hgncRootFamilies":[]}