Hepatocyte nuclear factor 4

Source: Wikipedia, the free encyclopedia.
Chr. 20 q12-20q13.1
Search for
StructuresSwiss-model
DomainsInterPro
Chr. 8 q21-q22
Search for
StructuresSwiss-model
DomainsInterPro

HNF4 (Hepatocyte Nuclear Factor 4) is a

HNF4γ, encoded by two separate genes HNF4A and HNF4G respectively.[1]

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

co-activator proteins.[7]

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

SHBG, which is known to be severely diminished in patients with insulin-resistance
.

See also

References

External links