What is the TSC2 gene?
The TSC2 gene provides instructions for producing a protein called tuberin. Within cells, tuberin interacts with a protein called hamartin, which is produced from the TSC1 gene. These two proteins help control cell growth and division (proliferation) and cell size.
What are the signs and symptoms of tuberous sclerosis?
Symptoms of tuberous sclerosis
- White spots on your skin that glow under a special lamp.
- A rash on your face that may look like acne.
- Problems with your kidneys.
- Areas of very thick skin, often on your back.
- Growths under or around your nails.
- Pitted teeth.
- Mental disabilities.
- Developmental delays.
Is RHEB a GTPase?
Rheb shares a 30–40% sequence identity with the Ras proteins. The Rheb proteins are highly conserved from yeast to mammals but are absent in prokaryotes [12, 13]. Rheb has intrinsic GTPase activity and can alternate between an active GTP-bound form and an inactive GDP-bound form .
What is TSC1?
The TSC1 gene provides instructions for producing a protein called hamartin. Within cells, hamartin interacts with a protein called tuberin, which is produced from the TSC2 gene. These two proteins help control cell growth and division (proliferation) and cell size.
What are TSC1 and TSC2 genes?
TSC is caused by a mutation in the DNA of either the TSC1 or TSC2 gene. The TSC1 gene is found on chromosome 9 and codes for the protein called hamartin. The TSC2 gene is found on chromosome 16 and codes for the protein called tuberin.
Is TSC1 or TSC2 worse?
The disparity in mutational frequency may reflect an increased rate of germline and somatic mutations in TSC2 as compared with TSC1, as well as an ascertainment bias, since mutations in TSC2 are associated with more severe disease (Dabora et al., 2001; Jansen et al., 2008; Kothare et al., 2014).
How is TSC diagnosed?
Diagnosis of the disorder is based on a careful clinical exam in combination with computed tomography (CT) or magnetic resonance imaging (MRI) of the brain—which may show tubers in the brain, and an ultrasound of the heart, liver, and kidneys, which may show tumors in those organs.
At what age is tuberous sclerosis diagnosed?
Patients were diagnosed with TSC at ages ranging from birth to 73 years. The average age at diagnosis was 7.5 years. Of the patients, 81% were diagnosed before the age of 10. Diagnosis during adolescence and adulthood was not uncommon.
Is TSC1 a gap?
The precipitated TSC2, which may also coimmunoprecipitate a small amount of endogenous TSC1, showed significant GAP activity toward Rheb (Fig. 1E). In contrast, immunoprecipitated TSC1 showed a very low level of GAP activity toward Rheb possibly due to coprecipitation of endogenous TSC2 protein.
Is RHEB an oncogene?
Constitutively active, GTP-bound Rheb has oncogenic potential; it transforms primary avian cells in culture and imparts on these cells the ability of anchorage-independent growth.
Which is worse TSC1 or TSC2?
Nonetheless, patients with TSC2 mutations have a worse overall prognosis than those with TSC1 mutations , and the conditional Tsc2 knockout mouse model has a more severe phenotype than the conditional Tsc1 knockout in the same conditional genetic background .
What is the difference between TSC1 and TSC2?