Disease-gene associations mined from literature

Literature associating LTBP3 and geleophysic dysplasia 3

LTBP3 [ENSP00000301873]

Latent-transforming growth factor beta-binding protein 3; Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta.

Synonyms:  LTBP3,  LTBP3p,  hLTBP3,  E9PJR2,  E9PKW1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM