Complete inactivation of the TSC2 gene leads to formation of hamartomas.
Au
K S
KS
Hebert
A A
AA
Roach
E S
ES
Northrup
H
H
D018322:Angiofibroma / Q000235:genetics / Q000473:pathology; D018207:Angiomyolipoma / Q000235:genetics / Q000473:pathology; D005260:Female; D016147:Genes, Tumor Suppressor / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics; D006222:Hamartoma / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics / Q000473:pathology; D019656:Loss of Heterozygosity / Q000235:genetics*; D008297:Male; D010641:Phenotype; D011506:Proteins / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D050396:TRPP Cation Channels; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
D011506:Proteins; D012097:Repressor Proteins; D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human