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Article

Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.

The Journal of biological chemistry - 13 Mar 2015

Yamak Abir, Georges Romain O, Sheikh-Hassani Massomeh, Morin Martin, Komati Hiba, Nemer Mona

Abstract excerpt

TBX5 is the gene mutated in Holt-Oram syndrome, an autosomal dominant disorder with complex heart and limb deformities. Its protein product is a member of the T-box family of transcription factors and an evolutionarily conserved dosage-sensitive regulator of heart and limb development. Understanding TBX5 regulation is therefore of paramount importance. Here we uncover the existence of novel exons and provide...

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Topics

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Share to Abnormalities, Multiple
Share to Alternative Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Heart Septal Defects, Atrial

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Share to Myocardium

Share to T-Box Domain Proteins

Share to Upper Extremity Deformities, Congenital

Source

Open in PubMed Open full text

Identifiers

PMID: 25623069
DOI: 10.1074/jbc.M114.634451
PMCID: PMC4358110

Genes

TBX5
BMP4

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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