LRRC32
This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies.
Full Name
leucine rich repeat containing 32
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: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 (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:19750484, PubMed:19651619).
Required for epithelial fusion during palate development by regulating activation of TGF-beta-3 (TGFB3) (By similarity).
Biological Process
Negative regulation of activated T cell proliferationIEA:Ensembl
Negative regulation of cytokine productionIEA:Ensembl
Positive regulation of gene expressionIEA:Ensembl
Regulation of transforming growth factor beta activationManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of transforming growth factor beta3 activationIEA:Ensembl
Secondary palate developmentISS:UniProtKB
Transforming growth factor beta receptor signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Cellular Location
Cell membrane
Cell surface
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.
Topology
Extracellular: 20-627
Helical: 628-648
Cytoplasmic: 649-662
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