DISEASES

Disease-gene associations mined from literature

Literature associating LTBP1 and phacogenic glaucoma

LTBP1 [ENSP00000386043]

Latent-transforming growth factor beta-binding protein 1; 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 (PubMed:2022183, PubMed:8617200, PubMed:8939931). 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 (PubMed:8617200, PubMed:8939931, PubMed:15184403). Outcompeted by LRRC32/GARP for binding to LAP regulatory chain of TGF-beta . ECO:0000269|PubMed:22278742, ECO:0000269|PubMed:8617200,; Belongs to the LTBP family.

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

Linkouts:  STRING  Pharos  UniProt  OMIM