Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1 gene. [5] TSC1 functions as a co-chaperone which inhibits the ATPase activity of …

Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2. The complex is known as a …

15%～20%确诊TSC的患者检测不到TSC基因突变，这部分患者症 状通常较轻。TSC1基因编码hamartin（错构瘤蛋白），TSC2基因编码tuberin（马铃薯球蛋白）。Hamartin和tuberin能形 …

Hamartin is a protein encoded by the TSC1 gene, playing a role in cell adhesion by binding to activated ERM proteins. It regulates Rho activity, impacting focal adhesions and cell shape. AI …

Tuberous sclerosis complex 1 (TSC1), also known as hamartin, is thought to be one such molecule. It is also known that hamartin is involved as a target in the rapamycin (mTOR) …

2020年9月30日 · Tuberous sclerosis complex 1 (TSC1), also known as hamartin, is thought to be one such molecule. It is also known that hamartin is involved as a target in the rapamycin …

结节性硬化症属于常染色体显性遗传，但亦常见散发病例。基因定位于9q34或16p13.3，为肿瘤抑制基因，分别命名为TSC1和TSC2;基因产物分别为Hamartin(错构素)和tuberin(马铃薯球蛋 …

2006年1月1日 · TSC1 and TSC2 are two recently identified tumour suppressor genes encoding hamartin and tuberin, respectively, and involved in pathogenesis of tuberous sclerosis, …

2024年9月21日 · Tuberous sclerosis complex (TSC) is a rare neurocutaneous disorder caused by heterozygous loss-of-function pathogenic variants in the tumour suppressor genes TSC1 and …

2000年12月14日 · We report here that overexpression of the tuberous sclerosis-1 (TSC1) gene product hamartin results in the inhibition of growth, as well as changes in cell morphology. …