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Glis2 knockout mice display decreased size and weight. The kidneys in these mice show progressive kidney atrophy and display symptoms similar to human nephronophthisis. Glis2 plays an essential role in the maintenance of renal tissue through prevention of apoptosis and fibrosis.
Clinical significance
Mutations in the GLIS2 gene are associated with nephronophthisis.
References
Zhang F, Jetten AM (December 2001). "Genomic structure of the gene encoding the human GLI-related, Krüppel-like zinc finger protein GLIS2". Gene. 280 (1–2): 49–57. doi:10.1016/S0378-1119(01)00764-8. PMID11738817.