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

rs397515020 in TSC2;NTHL1 gene and TUBEROUS SCLEROSIS 2 (disorder) PMID 16835931 2006 Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations.