Gene: TSC2
Alternate names for this Gene: LAM|PPP1R160|TSC4
Gene Summary: 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.
Gene is located in Chromosome: 16
Location in Chromosome : 16p13.3
Description of this Gene: TSC complex subunit 2
Type of Gene: protein-coding
Gene: NTHL1
Alternate names for this Gene: FAP3|NTH1|OCTS3|hNTH1
Gene Summary: The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity.
Gene is located in Chromosome: 16
Location in Chromosome : 16p13.3
Description of this Gene: nth like DNA glycosylase 1
Type of Gene: protein-coding