| Modification Notes |
Leucine-rich repeats (LRRs) are 20-30 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 the genes encoding LRR-containing proteins. LRTM2 (Leucine-rich repeat and transmembrane domain-containing protein 2) is a 370 amino acid single-pass type I membrane protein that contains six LRR repeats. The gene encoding LRTM2 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders. |