LTBP3

Description

The LTBP3 gene encodes Latent Transforming Growth Factor Beta Binding Protein 3, a crucial component of the extracellular matrix. LTBP3 interacts with Latent TGF-β Binding Proteins (LTBPs) and TGF-β, regulating their activity and influencing various cellular processes like cell growth, differentiation, and tissue remodeling. Mutations in the LTBP3 gene can disrupt these processes, leading to a spectrum of developmental and connective tissue disorders. This article delves into the structure, function, and disease associations of the LTBP3 gene.

Associated Diseases

• Beals-Hecht Syndrome (BBS)
• Ehlers-Danlos Syndrome (EDS)
• Congenital Contractural Arachnodactyly (CCA)
• Familial Thoracic Aortic Aneurysm (TAA)

Did you know?

Mutations in LTBP3 can lead to a wide range of phenotypes, highlighting the gene‘s pleiotropic effects on human development.