HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known asHNF1B ortranscription factor 2 (TCF2), is a humangene.
HNF1B encodes hepatocyte nuclear factor 1-beta, a protein of thehomeobox-containing basic helix-turn-helix family. The HNF1B protein is believed to formheterodimers 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 earlyembryogenesis failure.[5][6] Mutation of HNF1B that disrupts normal function has been identified as the cause ofMODY 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 theUnited States National Library of Medicine, which is in thepublic domain.
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