基因名:
HTT
产品别名:
HD; IT15; LOMARS; HTT; huntingtin; huntingtin; huntingtin; huntington disease protein; 亨廷顿蛋白(HTT); 磷酸化神经性舞蹈病蛋白; 神经性舞蹈病蛋白;
背景信息:
Huntingtin is a protein that contains a polyglutamine region. When the number of glutamine repeats exceeds 35, the gene encodes a version of Huntingtin that leads to Huntington’s disease (HD). When the polyglutamine stretch is mutated, Huntingtin acts within the nucleus to induce neurodegeneration by a cell-specific apoptotic mechanism. Loss of Huntingtin activity is unlikely to be the cause of HD, and it has been proposed that the expanded glutamine repeat region may induce an abnormal interaction between the mutant protein and other cellular proteins. Huntingtin interacts with a variety of proteins including HAP1, glyceraldehyde phosphate dehydrogenase (GAPDH) and HIP1.