Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1 gene. TSC1 functions as a co-chaperone which inhibits...
and kidney disease. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively...
complex (TSC1 or TSC2) tumor suppressor genes. TSC1 mutations cause a less severe clinical phenotype than TSC2 mutations. The discovery of TSC1/2 gene function...
causing chordoma. A possible association with tuberous sclerosis complex (TSC1 or TSC2) has been suggested. mTOR signaling is hyperactive in sporadic sacral...
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...
an autosomal dominant disorder that is caused by mutations in either the TSC1 or TSC2 gene and it affects approximately 1 in 6,000–10,000 live births....
neuroectodermally-derived tissue. TSC1 or TSC2 inactivation can cause TSC and the associated tumors in the brain. When inactivation of TSC1 is present during corticogenesis...
diseases or sporadic, angiomyolipomas are caused by mutations in either the TSC1 or TSC2 genes, which govern cell growth and proliferation. They are composed...
anchoring protein 14-3-3 to TSC2, disrupting the TSC1/TSC2 dimer. When TSC2 is not associated with TSC1, TSC2 loses its GAP activity and can no longer hydrolyze...
mutations in TSC1 led to a lengthened duration of response to everolimus and to an increase in the time to cancer recurrence. The mutated TSC1 apparently...
suppressor and is able to stimulate specific GTPases. Hamartin coded by the gene TSC1 functions as a facilitator of Hsp90 in chaperoning of tuberin, therefore...
autosomal dominant genetic disorder caused by mutations in the genes TSC1 and TSC2. TSC1 produces the protein hamartin. TSC2 produces the protein tuberin...
complex (TSC) tumor suppressors form the TSC1-TSC2 molecular complex. Under poor growth conditions the TSC1-TSC2 complex limits cell growth. A key promoter...
FGFR3 Townes–Brocks syndrome 107480 SALL1, DACT1 Tuberous sclerosis 191100 TSC1, TSC2 VATER association 192350 Ven den Ende–Gupta syndrome 600920 SCARF2...
from his laboratory at UT Southwestern uncovered the molecular function of Tsc1 and Tsc2 by linking these tumor suppressor genes to Rheb and mTOR signaling...
polypeptide has been shown to interact with: MAP2, Protein kinase N1, and TSC1. GRCh38: Ensembl release 89: ENSG00000277586 – Ensembl, May 2017 GRCm38:...
epitheloid cell". Genetically, PECs are linked to the tuberous sclerosis genes TSC1 and TSC2, although this link is stronger for angiomyolipoma and lymphangioleiomyomatosis...
lung and kidney disease. TSC is caused by mutations on either of two genes, TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively...
MTCP1, MTOR, NPM1, NR4A1, NR3C4, PKN2, PRKCQ, PDPK1, PLXNA1, TCL1A, TRIB3, TSC1, TSC2, and YWHAZ. AKT – the AKT family of proteins AKT2 – the gene for the...
FGFR3, TP53, PIK3CA, KDM6A, ARID1A, KMT2D, HRAS, TERT, KRAS, CREBBP, RB1 and TSC1 genes may be associated with some cases of bladder cancer. Deletions of parts...
sixth genes that are linked to autism are the tuberous sclerosis genes (TSC1 and TSC2). Mutations in one of these two genes cause multiple benign tumors...
Roy C, Diefenbach TJ, Vinters HV, Johnson MW, Jay DG, Hall A (2000). "The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and...
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