Topic Completed: 1 June 2005

Revised: 6 March 2019

Copyright: 2003-2015,, Inc.

PubMed Search: Hamartin[title]

Nat Pernick, M.D.
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Table of Contents
Definition / general
Cite this page: Pernick N. Hamartin. website. Accessed February 18th, 2020.
Definition / general
  • Also called TSC1
  • On 9q34
  • Mutations cause tuberous sclerosis, an autosomal dominant disease beginning in infancy or early childhood with intellectual disability 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
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