Automated description from the Alliance of Genome Resources (Release 7.4.0)
Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including cholesterol homeostasis; phospholipid homeostasis; and regulation of insulin secretion. Acts upstream of or within several processes, including regulation of gastrulation; regulation of gene expression; and sex differentiation. Located in nucleus. Is expressed in several structures, including ear; early conceptus; gut; metanephros; and nervous system. Used to study Fanconi syndrome and maturity-onset diabetes of the young type 1. Human ortholog(s) of this gene implicated in Fanconi renotubular syndrome 4; familial combined hyperlipidemia; hypoglycemia; maturity-onset diabetes of the young type 1; and type 2 diabetes mellitus. Orthologous to human HNF4A (hepatocyte nuclear factor 4 alpha).
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