| Modification Notes |
The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. The primary function of these motifs is to provide a versatile structural framework to mediate the formation of protein-protein interactions. LRRs are present in a variety of proteins with diverse structure and function, including innate immunity and nervous system development. Several human diseases are associated with mutations in genes encoding LRR-containing proteins. LRRC8E (Leucine-rich repeat-containing protein 8E) is a 796 amino acid multi-pass membrane protein that contains thirteen LRR (leucine-rich) repeats and is expressed in placenta, pancreas, liver and lung. The LRRC8 protein family is involved in B cell development and differentiation. Mutation or deficiency of LRRC8 proteins is the cause of agammaglobulinemia, an inherited disorder in which there are very low levels of immunoglobulins. |