Inferred by orthology to human genes with DO annotation (HGNC:10891)
Disease_relevance
Mutations in the human Six5 protein have been implicated in Myotonic dystrophy 1 (DM1), a highly variable disease characterized by progressive muscle wasting, eye cataracts, cardiac abnormalities, and insulin resistance; in C. elegans, mutants in unc-29 (e257), orthologous to human Six5, show uncoordinated movement, mesodermal defects, and neuronal developmental and pathfinding defects; these studies indicate that unc-29/Six5 may be involved in development of mesoderm and differentiation and migration of neurons; the variable expressivity and penetrance of unc-39 defects are reminiscent of the pleiotropy seen in DM1 patients; some of the unc-29 mutant defects (coelomocyte specification) could be rescued by a transgene containing Six domain and homeodomain coding region from human Six5, showing a functional conservation between unc-29 and Six5; these studies indicate that unc-29 serves as a model to study how Six5 plays a role in conditions leading to myotonic dystrophy.