Author: Nat Pernick, M.D. (see Authors page)

Revised: 24 November 2015, last major update June 2005

Copyright: (c) 2003-2015,, Inc.

PubMed Search: Hamartin[title]

Table of Contents
Definition / General
Definition / General
  • Also called TSC1
  • On 9q34
  • Mutations cause tuberous sclerosis, an autosomal dominant disease beginning in infancy or early childhood with mental retardation and seizures, angiomyolipomas, subependymal giant cell tumors, cutaneous angiofibromas, cardiac rhabdomyomas, lymphangioleiomyomatosis and multifocal multinodular pneumocyte hyperplasia
  • 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