LTBP1 (gene)

LTBP1 (Latent transforming growth factor beta binding protein 1) is a protein that in humans is encoded by the LTBP1 gene. This protein is part of the large latent complex that forms when TGF-beta is secreted from cells.

Function

The LTBP1 protein is part of the extracellular matrix, a meshwork of proteins and carbohydrates that forms a scaffold for cells and tissues. The LTBP1 protein binds to a protein called TGF-beta, keeping it in an inactive (or latent) form in the extracellular matrix. When TGF-beta is activated, it regulates various cellular functions, including cell growth, cell division, the maturation of cells to carry out specific functions (differentiation), cell movement (migration), and controlled cell death (apoptosis).

Clinical significance

Mutations in the LTBP1 gene have been associated with Geleophysic dysplasia, a rare genetic disorder characterized by short stature, short hands and feet, distinctive facial features, and heart and lung problems.

See also

• Transforming growth factor beta
• Extracellular matrix
• Geleophysic dysplasia

External links

• LTBP1 at the NCBI Gene

This article is a stub related to genetics. You can help WikiMD by expanding it!