Hepatocyte nuclear factor 4 alpha

See also: MODY 1

Hepatocyte nuclear factor 4 alpha (HNF4A) also known as NR2A1 (nuclear receptor subfamily 2, group A, member 1) is a nuclear receptor that in humans is encoded by the HNF4A gene.

Function

HNF-4α is a nuclear transcription factor that binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene plays a role in development of the liver , kidney , and intestines . Alternative splicing of this gene results in multiple transcript variants.

HNF4A is required for the PXR and CAR-mediated transcriptional activation of CYP3A4.

The alkaloid berberine upregulates the expression of HNF4A.

This gene also plays a pivotal role in the expression and synthesis of SHBG, an important glycoprotein made primarily in the liver, which in addition to lowering insulin-resistance also serves in reducing levels of free Oestrogen as-well as prolonging the half-life of Testosterone.

Clinical significance

Mutations in the HNF4A gene are associated with a form of diabetes called maturity onset diabetes of the young (MODY).

Increased amplification of hepatocyte nuclear factor 4 alpha has been observed in colorectal cancer.

Interactions

Hepatocyte nuclear factor 4 alpha has been shown to interact with:

• Beta-catenin,
• CREB binding protein,
• MED1,
• MED14,
• Small heterodimer partner
• Testicular receptor 4,

See also

• Hepatocyte nuclear factor 4
• Hepatocyte nuclear factors

External links

• FactorBook HNF4A

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