PARL Monoclonal Antibody, 50ul Miscellaneous Mutations in TSC2 lead to

Mutations in TSC2 lead to tuberous sclerosis complex

and also to protein kinase C and the phosphatase calcineurin

UBFD1 (Ubiquitin Family Domain Containing 1) is a Protein Coding gene

a dimerization domain

and two NADP(+)-dependent isocitrate dehydrogenases

PARL Monoclonal Antibody, 50ul Miscellaneous Mutations in TSC2 lead toThis gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease.