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Article

Identification and functional characterization of the human EXT1 promoter region.

Gene - 15 Jan 2012

Jennes Ivy, Zuntini Monia, Mees Kirsten, Palagani Ajay, Pedrini Elena, De Cock Greet, Fransen Erik, Vanden Berghe Wim, Sangiorgi Luca, Wuyts Wim

Abstract excerpt

BACKGROUND: Mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2) cause the autosomal dominant disorder multiple osteochondromas (MO). This disease is mainly characterized by the appearance of multiple cartilage-capped protuberances arising from children's metaphyses and is known to display clinical inter- and intrafamilial variations. EXT1 and EXT2 are both tumor suppressor genes encoding proteins that function...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22037484
DOI: 10.1016/j.gene.2011.10.034

Genes

EXT1
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Identification and functional characterization of the human EXT1 promoter region.PMID 22037484Read ↗

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