Variants
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HNF1B Gene

HNF1 homeobox B

ALIAS SYMBOLS

  • LFB3

  • VHNF1

  • HNF1beta

  • MODY5

  • HNF1β

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Description

The HNF1B gene provides instructions for making a protein called hepatocyte nuclear factor-1 beta (HNF-1β). This protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. Based on this role, the protein is called a transcription factor. The HNF-1β protein is one of a large group of transcription factors called homeodomain proteins. The homeodomain is a region of the protein that allows it to bind to DNA.

The HNF-1β protein is found in many organs and tissues, including the lungs, liver, intestines, pancreas, kidneys, genital tract, and urinary tract and is thought to play a role in their development. The HNF-1β protein is important for development and function of the kidneys and beta cells in the pancreas. Beta cells produce and release (secrete) the hormone insulin. Insulin helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy.

CHROMOSOME

17


LOCATION

q12


LOCUS TYPE

gene with protein product

VARIANTS

277

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:11630

  • NCBI

    6928

  • OMIM

    189907

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