Topic Completed: 1 June 2005

Revised: 11 March 2019

Copyright: 2003-2015,, Inc.

PubMed Search: Tuberin[title]

Nat Pernick, M.D.
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Table of Contents
Definition / general
Cite this page: Pernick N. Tuberin. website. Accessed September 18th, 2019.
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)
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