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HNF4A
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs736823 | |||
| rs145845882 | |||
| rs41282026 | |||
| rs1259110384 | |||
| rs147638455 | |||
| rs1271708333 | |||
| rs184317408 | |||
| rs191830490 | |||
| rs553551030 | |||
| rs780830782 | |||
| rs1028583 | |||
| rs1028584 | |||
| rs11086924 | |||
| rs1963710 | |||
| rs2273618 | |||
| rs3212199 | |||
| rs3212201 | |||
| rs3746575 | |||
| rs6031593 | |||
| rs6031598 |
Summary
The HNF4A gene codes for hepatocyte nuclear factor-4 alpha (HNF-4alpha). HNF-4alpha regulates gene activity [R].
In particular, it helps regulate the activity of genes that influence the function of beta cells in the pancreas. Beta cells release insulin, a hormone that helps control blood sugar [R, R].
HNF-4alpha is also important for the function of the liver [R].
HNF4A polymorphisms are primarily linked to diabetes [R].
Protein names
Found in These Blog Articles
GHR Function
Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1-alpha. May be essential for development of the liver, kidney and intestine.
More Information
HNF4-alpha plays a role in the development of the liver, kidney, and intestines. HNF4A is required for the PXR and CAR activation of CYP3A4, which is needed to metabolize a bunch of drugs and toxins.
Hnf4a may exert direct effects on various genes specifically associated with amine syntheses, such as genes involved in serotonin metabolism and related immunological functions.
Moreover, these genes may influence lipid metabolism, coagulation, and hormonal activity. Hnf4a may have a critical influence on homeostasis under depressive states, and may be associated with the mechanisms responsible for the interactions between depression and the dysregulation of physiological homeostasis in humans. (Ref)
This gene also plays a pivotal role in the expression and synthesis of SHBG, which in addition to lowering insulin resistance also serves in reducing levels of free estrogen as well as prolonging the half-life of Testosterone. (Ref)
Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1-alpha. May be essential for development of the liver, kidney and intestine.
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. Mutations in this gene have been associated with non-insulin-dependent diabetes mellitus type I.
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