LRRC32
Function
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:19651619, PubMed:19750484, 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 (PubMed:22278742). Able to outcompete LTBP1 for binding to LAP regulatory chain of TGF-beta (PubMed:22278742). Controls activation of TGF-beta-1 (TGFB1) on the surface of activated regulatory T-cells (Tregs) (PubMed:19651619, PubMed:19750484). Required for epithelial fusion during palate development by regulating activation of TGF-beta-3 (TGFB3) (By similarity).
Involvement in disease
Cleft palate, proliferative retinopathy, and developmental delay
CPPRDD
An autosomal recessive disorder characterized by mild to severe intellectual disability with delayed or absent speech, hypotonia, cleft palate, proliferative retinopathy, and combined sensorineural and conductive hearing loss. Brain imaging shows ventriculomegaly, widened subarachnoid spaces, partial agenesis of the corpus callosum, hypoplastic cerebellar vermis, and Dandy Walker malformation.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the LRRC32/LRRC33 family.
Tissue Specificity
Preferentially expressed in regulatory T-cells (Tregs).
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cell surface
Alternative names
D11S833E, LRRC32, Transforming growth factor beta activator LRRC32, Garpin, Glycoprotein A repetitions predominant, Leucine-rich repeat-containing protein 32, GARP