Not available outside of the UK & Ireland.
General description
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)
Immunogen
TSC2 (NP_000539, 540 a.a. ~ 658 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLFLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKK
Physical form
Solution in phosphate buffered saline, pH 7.4
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