Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 6 September 2013, last major update June 2005
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.
PubMed Search: Tuberin[title]
- 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)
End of Stains > Tuberin
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