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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
LTBP1 has been shown to interact with:
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
