DISEASES

Disease-gene associations mined from literature

Literature associating LTBP3 and geleophysic dysplasia 3

LTBP3 [ENSP00000301873]

Latent transforming growth factor beta binding protein 3; May be involved in the assembly, secretion and targeting of TGFB1 to sites at which it is stored and/or activated. May play critical roles in controlling and directing the activity of TGFB1. May have a structural role in the extracellular matrix (ECM); Belongs to the LTBP family.

Synonyms:  LTBP3,  LTBP3p,  hLTBP3,  B9EG76,  E9PJR2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM