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).

[7] This article incorporates text from the United States National Library of Medicine, which is in the public domain.