LTBP1

LTBP1 is a protein that in humans is encoded by the LTBP1 gene. It is a member of the latent transforming growth factor beta binding protein (LTBP) family. The LTBP family are extracellular matrix proteins that play a crucial role in the regulation of TGF-beta bioavailability.

Function

The LTBP1 gene encodes a member of the latent transforming growth factor beta binding protein (LTBP) family. The encoded protein plays a role in the regulation of TGF-beta bioavailability. The protein interacts with Fibrillin and is thought to be involved in the sequestration of latent TGF-beta complexes in the extracellular matrix.

Clinical significance

Mutations in the LTBP1 gene have been associated with Geleophysic dysplasia 2, a rare disorder characterized by short stature, small hands and feet, stiff joints, and thick skin.

Interactions

LTBP1 has been shown to interact with:

• Fibrillin 1
• TGF beta 1
• TGF beta 2
• TGF beta 3

External links

• LTBP1 at the NCBI Gene

LTBP1 Resources
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