| Modification Notes |
Leucine-rich repeats (LRRs) are 20-29 amino acid motifs that mediate protein-protein interactions. The primary function of these motifs is to provide a versatile structural framework for the formation of these 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. The leucine-rich repeat-containing protein 3 (LRRC3 or LRRC3A) is a 257 amino acid protein that contains 3 LRR repeats. The gene encoding LRRC3 maps to chromosome 21, the smallest of the human chromosomes. Chromosome 21 contains nearly 300 genes and 47 million base pairs. Down syndrome, also known as trisomy 21, is the disease most commonly associated with chromosome 21. Translocations are found to occur between chromosome 21 and 8, and chromosome 21 and 12, in certain leukemias. |