HNF4A Antibody – Rabbit Polyclonal

The protein encoded by this gene is a nuclear transcription factor which 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 may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]

HNF4 alpha: a nuclear transcription factor which binds DNA as a homodimer. Controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic gene, alpha 1-antitrypsin, apolipoprotein CIII, and transthyretin genes. May be essential for development of the liver, kidney and intestine. Mutations have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Four alternatively spliced isoforms have been described.

Protein type: Nuclear receptor; DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 20q13.12

Cellular Component: nucleoplasm; cytoplasm; nucleus

Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; ligand-dependent nuclear receptor activity; protein binding; protein homodimerization activity; DNA binding; zinc ion binding; steroid hormone receptor activity; transcription factor activity; fatty acid binding; receptor binding

Biological Process: transcription initiation from RNA polymerase II promoter; regulation of lipid metabolic process; intracellular receptor-mediated signaling pathway; positive regulation of transcription, DNA-dependent; lipid homeostasis; glucose homeostasis; endocrine pancreas development; regulation of transcription from RNA polymerase II promoter; negative regulation of cell proliferation; xenobiotic metabolic process; regulation of gastrulation; response to glucose stimulus; ornithine metabolic process; gene expression; positive regulation of transcription from RNA polymerase II promoter; steroid hormone mediated signaling; lipid metabolic process; negative regulation of cell growth; blood coagulation; regulation of insulin secretion; sex differentiation; phospholipid homeostasis

Disease: Fanconi Renotubular Syndrome 4 With Maturity-onset Diabetes Of The Young; Maturity-onset Diabetes Of The Young, Type 1; Diabetes Mellitus, Noninsulin-dependent