Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 2 November 2015, last major update June 2005
Copyright: (c) 2003-2015,, Inc.
PubMed Search: Tuberin[title]
Table of Contents
Definition / General
Definition / General
  • Encoded by TSC2 gene on 16p13.3; adjacent to PKD1 gene for autosomal dominant kidney disease
  • Causes tuberous sclerosis (see TSC1)
  • Homologous to GTPase activating protein
  • Broadly expressed in many organs and tissues, including myometrium and most smooth muscle
  • Negative regulator of cell cycle – inhibits cell proliferation
  • Inactivation causes benign neoplasms in patients with tuberous sclerosis complex
  • Reduced immunostaining is associated with uterine leiomyomas (Mod Pathol 2005;18:179)