Application:WB,ELISA
Reactivity: Human (predicted: Mouse,Rat,Rabbit,Pig,Cow,Chicken,Dog,Horse)
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq].