Based on limited published evidence, LRCH2 may play a role in cytoskeleton organization through protein binding interactions. A missense mutation (p.Lys258Glu) in the evolutionarily conserved leucine-rich repeat domain was identified in a family with X-linked early-onset ataxia and cerebellar hypoplasia associated with demyelinating polyneuropathy 1. LRCH2 is expressed in Schwann cells and developing cerebellar tissue, suggesting involvement in neuronal development and myelination.