DCC基因編碼功能及結構描述
這個基因編碼一個netrin 1受體。跨膜蛋白是細胞粘附分子免疫球蛋白超家族的成員,介導神經元生長錐軸突向netrin 1配體來源的引導。胞質尾與酪氨酸激酶SRC和局灶性粘附激酶(FAK,也稱為PTK2)相互作用,介導軸突的吸引。該蛋白部分定位于脂質筏,在沒有配體的情況下誘導細胞凋亡。這種蛋白作為腫瘤抑制因子發揮作用,在結直腸癌和食管癌中經常發生突變或下調。
This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma.