| 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 34 (LRRC34) is a 419 amino acid protein that contains 2 LRR repeats. The gene encoding LRRC34 maps to chromosome 3, which encodes over 1,100 genes. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3. |