Immunoglobulin superfamily containing leucine-rich repeat protein 2 (ISLR2)

Immunoglobulin superfamily containing leucine-rich repeat protein 2 (ISLR2), also known as LINX, is a type I transmembrane protein belonging to both the immunoglobulin superfamily and leucine-rich repeat (LRR) domain-containing proteins. ISLR2 contains five extracellular LRRs, an Ig-like domain, and a transmembrane region. It is specifically expressed in the central and peripheral nervous systems, particularly in the brain and in neurons associated with neural connectivity and axon guidance. ISLR2 is required for axon extension during neural development, contributing to the organization and connectivity of the forebrain. Deficiency or mutation of ISLR2/LINX leads to severe neurodevelopmental defects, hydrocephalus, and perinatal lethality in animal models. It is implicated in certain cancers (melanotic medulloblastoma and breast angiosarcoma). The protein shows selective neural tissue expression, with high abundance in the brain and little to no expression in non-neural cell types. While important for nervous system development, there are currently no established drugs or biomarkers directly targeting this molecule.

Other names

Immunoglobulin superfamily containing leucine-rich repeat protein 2ISLR2KIAA1465LINXUNQ1885/PRO4329leucine-rich repeat domain and immunoglobulin domain-containing axon extension proteinLeucine-rich repeat domain and immunoglobulin domain-containing axon extension protein