WebAug 8, 1997 · The predicted TSC1 protein, which we call hamartin, consists of 1164 amino acids with a calculated mass of 130 kD (Fig.4). The protein is generally hydrophilic and … WebTuberous sclerosis complex (TSC) is an autosomal dominant disorder that causes symptoms including hamartomas in brain, kidney, heart, lung and skin (1). The tumor …

TSC1 TSC complex subunit 1 - NIH Genetic Testing Registry (GTR) …

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 tumor suppressor. Mutations in these genes can cause tuberous sclerosis complex. Depending on the grade of the disease, intellectual disability, epilepsy and tumors of the skin, retina, heart, kidney and the central nervous system can be symptoms. WebTSC genetics. TSC1 is located on chromosome 9q34, and TSC2 is located on chromosome 16p13 (). 9,10 TSC1 is a 23 exon gene encoding an 8.6 kb transcript and a 30 kDa protein, known as TSC1 or hamartin. TSC2 encodes a 5.5 kb transcript and a 180 kDa protein, known as TSC2 or tuberin. 11 TSC1 and TSC2 are widely expressed across cell types and organ … 10通丝杆一米有多重

Tuberous sclerosis protein - Wikipedia

WebDec 19, 2024 · Eighty-six TSC1/2 variants were identified in 46 of the 61 LAM patients (75.4%) in which TSC2 and TSC1 variants were 88.37% and 11 ... Nellist M, Nagelkerken B, Cheadle J, Snell R, van den Ouweland A, et al. (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Human molecular genetics 7 (6): 1053–1057 ... WebTBC1D7 stabilizes TSC the hamartin tuber complex through hamartin . During routine molecular genetic diagnostic testing for TSC1/TSC2 mutations, 5–25% of the TSC … WebAug 4, 2024 · tsc1 Systematic ID SPAC22F3.13 Product Rheb GAP, hamartin Tsc1 Organism Schizosaccharomyces pombe (fission yeast) UniProt ID Q09778 ORFeome ID 39/39A02 … 10連勤