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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...
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mutation of
either of two genes, TSC1 and TSC2,
which code for the
proteins hamartin and tuberin, respectively, with TSC2
mutations accounting for the majority...
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caused by
mutations in the
genes TSC1 and TSC2. TSC1
produces the
protein hamartin. TSC2
produces the
protein tuberin. This
disorder presents with many benign...
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believed to be a
tumor suppressor and is able to
stimulate specific GTPases.
Hamartin coded by the gene TSC1
functions as a
facilitator of Hsp90 in chaperoning...
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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...
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Takemaru K,
Kenerson HL, Moon RT,
Yeung RS (February 2003). "The tuberin-
hamartin complex negatively regulates beta-catenin
signaling activity". The Journal...
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mutations on
either of two genes, TSC1 and TSC2,
which encode for the
proteins hamartin and
tuberin respectively.
These proteins act as
tumour growth suppressors...
- Alpha-galactosidase
Fabry disease GLUT-1
Infantile hemangioma Hairless Pa****r
atrichia Hamartin Tuberous sclerosis type 1 HFE
Hemochromatosis HPS1 HPS1 Hermansky–Pudlak...
- Gonzalez-Agosti C, et al. (November 2002). "The TSC1
tumor suppressor hamartin interacts with neurofilament-L and
possibly functions as a
novel integrator...
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Vinters HV,
Johnson MW, Jay DG, Hall A (2000). "The TSC1
tumour suppressor hamartin regulates cell
adhesion through ERM
proteins and the
GTPase Rho". Nat....
