Hepatocyte nuclear factor 4
Chr. 20 q12-20q13.1 | |||||||
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Chr. 8 q21-q22 | |||||||
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HNF4 (Hepatocyte Nuclear Factor 4) is a
Ligands
HNF4 was originally classified as an orphan receptor that exhibits constitutive transactivation activity apparently by being continuously bound to a variety of fatty acids.[2][3] The existence of a ligand for HNF4 has been somewhat controversial, but linoleic acid (LA) has been identified as the endogenous ligand of native HNF4 expressed in mouse liver; the binding of LA to HNF4 is reversible.[4]
The ligand binding domain of HNF4, as with other nuclear receptors, adopts a canonical alpha helical sandwich
HNF4 binds to the consensus sequence AGGTCAaAGGTCA in order to activate transcription.
Pathology
Mutations in the HNF4A gene have been linked to maturity onset diabetes of the young 1 (MODY1).[8]
This seems to be caused by HNF4-a's [1] role in the synthesis of
See also
- Hepatocyte nuclear factors
- Hepatocyte nuclear factor 4A
References
External links
- Hepatocyte+Nuclear+Factor+4 at the U.S. National Library of Medicine Medical Subject Headings (MeSH)