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Article

Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney.

American journal of physiology. Renal physiology - 1 May 2000

Murthy V, Haddad L A, Smith N, Pinney D, Tyszkowski R, Brown D, Ramesh V

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in multiple organs, notably the brain and kidneys. The disease is caused by mutations in TSC1 or TSC2 genes, coding hamartin and tuberin, respectively. Immunofluorescence analysis of tuberin and hamartin performed here demonstrates that both proteins are specifically expressed in the distal urinary tubule, comprising...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10807585
DOI: 10.1152/ajprenal.2000.278.5.F737

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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