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GLIS3 is a member of the GLI similar zinc finger protein family, and encodes a nuclear protein with five C2H2 type zinc finger domains. It functions as both an activator and repressor of transcription, and is specifically involved in the development of pancreatic beta cells, thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full length nature of only two have been determined.
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