| Modification Notes |
TM9SF2 (transmembrane 9 superfamily member 2), also known as p76, is a 663 amino acid endosomal multi-pass membrane protein that is ubiquitously expressed, with high expression in pancreas and kidney, and lower levels in lung, liver, skeletal muscle, placenta, brain and heart. A member of the nonaspanin (TM9SF) family, TM9SF2 is thought to act as an endosome ion channel or small molecule transporter in intracellular compartments, and colocalizes with both transferrin receptors and various mannose 6-phosphate receptors. The gene encoding TM9SF2 maps to human chromosome 13, which houses over 400 genes, such as BRCA2 and RB1, and comprises nearly 4% of the human genome. Trisomy 13, also known as Patau syndrome, is deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections. |