LTBP3 Gene: Latent TGF-β Binding Protein 3 - Function, Mutations & Disease

LTBP3 encodes latent transforming growth factor beta binding protein 3, a member of the LTBP family. This protein binds to the latent form of TGF-β and targets it to the extracellular matrix, regulating TGF-β activation and bioavailability. LTBP3 is essential for proper skeletal and dental development, as well as for maintaining extracellular matrix integrity. Mutations in LTBP3 are associated with autosomal recessive disorders including dental anomalies and short stature.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• TGF-beta signaling pathway (KEGG hsa04350)

• Extracellular matrix organization (Reactome R-HSA-1474244)

• Regulation of TGF-β activation (Reactome R-HSA-2129379)

LTBP3 is a 1303-amino-acid extracellular matrix protein that binds latent TGF-β via its latent TGF-β binding domain. It contains multiple EGF-like domains and a hybrid motif that mediates interaction with fibrillin microfibrils. LTBP3 is critical for targeting latent TGF-β to the matrix, where proteolytic release activates TGF-β signaling. Defects in LTBP3 cause skeletal and dental dysplasias due to impaired TGF-β bioavailability.