Hepatocyte nuclear factor 4 alpha
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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.[1][2]
Contents
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.[3]
HNF4A is required for the PXR and CAR-mediated transcriptional activation of CYP3A4.[4]
The alkaloid berberine upregulates the expression of HNF4A.[5]
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.[citation needed]
Clinical significance
Mutations in the HNF4A gene are associated with a form of diabetes called maturity onset diabetes of the young (MODY).[6]
Increased amplification of hepatocyte nuclear factor 4 alpha has been observed in colorectal cancer.[7]
Interactions
Hepatocyte nuclear factor 4 alpha has been shown to interact with:
- Beta-catenin,[8]
- CREB binding protein,[9][10]
- MED1,[11][12]
- MED14,[11][12]
- Small heterodimer partner[13]
- Testicular receptor 4,[14]
See also
References
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Further reading
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External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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- Intracellular receptors
- Transcription factors