DISEASES

Disease-gene associations mined from literature

Literature associating LRRC32 and isolated cleft palate

LRRC32 [ENSP00000384126]

Transforming growth factor beta activator LRRC32; 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:19750484, PubMed:19651619, PubMed:22278742). 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 . Able to outcompete LTBP1 for binding to LAP regulatory chain of TGF-beta . Controls activation of TGF-beta-1 (TGFB1) on the surface of activated regulatory T-cells (Tregs) . Required for epithelial fusion during palate development by regulating activation of TGF-beta-3 (TGFB3) (By similarity). ECO:0000269|PubMed:19651619, ECO:0000269|PubMed:19750484,

Synonyms:  LRRC32,  LRRC32p,  hLRRC32,  A0A024R5J7,  C9JYU3 ...

Linkouts:  STRING  Pharos  UniProt