HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known as HNF1Bortranscription factor 2 (TCF2), is a human gene.
HNF1B encodes hepatocyte nuclear factor 1-beta, a protein of the homeobox-containing basic helix-turn-helix family. The HNF1B protein is believed to form heterodimers with another member of this transcription factor family, HNF1A; depending on the HNF1B isoform, the result may be to activate or inhibit transcription of target genes. Deficiency of HNF1B cause abnormal maternal-Zygote transition and early embryogenesis failure.[5][6] Mutation of HNF1B that disrupts normal function has been identified as the cause of MODY 5 (Maturity-Onset of Diabetes, Type 5). A third human transcript variant is believed to exist based on such a variant in the rat: however, to date such an mRNA species has not been isolated.[7]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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2da6: Solution structure of the homeobox domain of Hepatocyte nuclear factor 1-beta (HNF-1beta)
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