DISEASES

Disease-gene associations mined from literature

Literature associating LTBP1 and Weill-Marchesani syndrome

LTBP1 [ENSP00000386043]

Latent transforming growth factor beta binding protein 1; 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); Latent transforming growth factor beta binding proteins

Synonyms:  LTBP1,  LTBP1p,  hLTBP1,  C9JD84,  C9JDW2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM