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Monday 7 April 2008

Definition! GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 mutations are extremely rare.


GLIS3 is expressed in the pancreas from early developmental stages, with greater expression in beta cells than in other pancreatic tissues.

These results demonstrate a major role for GLIS3 in the development of pancreatic beta cells and the thyroid, eye, liver and kidney.


- GLIS3 germline mutations in rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism

  • neonatal diabetes
  • neonatal hypothyroidism
  • congenital glaucoma
  • hepatic fibrosis
  • polycystic kidneys

See also



- Senée V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougnères P, Taha D, Julier C. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat Genet. 2006 Jun;38(6):682-7. PMID: 16715098

- Jeha GS, Tatevian N, Heptulla RA. Congenital hypothyroidism in association with Caroli’s disease and autosomal recessive polycystic kidney disease: patient report. J Pediatr Endocrinol Metab. 2005 Mar;18(3):315-8. PMID: 15813611

- Taha D, Barbar M, Kanaan H, Williamson Balfe J. Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome? Am J Med Genet A. 2003 Oct 15;122(3):269-73. PMID: 12966531