Is tuberous sclerosis complex autosomal dominant or recessive?
Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development.
What is 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.
How serious is tuberous sclerosis?
Depending on where the noncancerous growths (benign tumors), develop and their size, they can cause severe or life-threatening complications in people with tuberous sclerosis.
Where is TSC2 located?
| TSC2 | |
|---|---|
| Aliases | TSC2, LAM, PPP1R160, TSC4, tuberous sclerosis 2, TSC complex subunit 2 |
| External IDs | OMIM: 191092 MGI: 102548 HomoloGene: 462 GeneCards: TSC2 |
| Gene location (Human) Chr. Chromosome 16 (human) Band 16p13.3 Start 2,047,967 bp End 2,089,491 bp |
What is hamartin?
Hamartin is a 1,164-amino-acid/130 KDa tumor suppressor protein expressed in most human tissues (Plank et al., 1999; Johnson et al., 2001). It is hydrophilic and has transmembrane domains at amino acids 127–144 and within its coiled-coil region at residues 719–998 (Nellist et al., 1999).
What does TSC2 stand for?
Tuberous Sclerosis Complex 2 (TSC2), also known as Tuberin, is a protein that in humans is encoded by the TSC2 gene.
What is the life expectancy of someone with TSC?
Most people with TSC will live a normal life span. There can be complications in some organs such as the kidneys, lungs, and brain that can lead to severe difficulties and even death if left untreated. Uncontrolled epilepsy can also be life-threatening.