基因名称(Gene Name)
HNF4A HNF4 NR2A1 TCF14
蛋白名称
Hepatocyte nuclear factor 4-alpha
组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
来源
Monoclonal, Rabbit,IgG
稀释比例
IHC 1:1000-1:5000; WB 1:2000-1:10000; IF 1:200-1:1000; ELISA 1:5000-1:20000; IP 1:50-1:200; Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0
储存
-15°C to -25°C/1 year(Do not lower than -25°C)
其他名称
HNF4A ; HNF4 ; NR2A1 ; TCF14 ; Hepatocyte nuclear factor 4-alpha ; HNF-4-alpha ; Nuclear receptor subfamily 2 group A member 1 ; Transcription factor 14 ; TCF-14 ; Transcription factor HNF-4
背景
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],
功能
Alternative products:Additional isoforms seem to exist,Disease:Defects in HNF4A are the cause of maturity onset diabetes of the young type 1 (MODY1) [MIM:125850]; also shortened MODY-1. MODY [MIM:606391] is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age) and a primary defect in insulin secretion. The clinical phenotype of MODY1 is characterized by severe insulin secretory defects, and by major hyperglycemia associated with microvascular complications.,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.,miscellaneous:Binds fatty acids.,online information:Hepatocyte nuclear factors entry,PTM:Phosphorylated on tyrosine residue(s); phosphorylation is important for its DNA-binding activity. Phosphorylation may directly or indirectly play a regulatory role in the subnuclear distribution.,similarity:Belongs to the nuclear hormone receptor family.,similarity:Belongs to the nuclear hormone receptor family. NR2 subfamily.,similarity:Contains 1 nuclear receptor DNA-binding domain.,subunit:Homodimerization is required for HNF4-alpha to bind to its recognition site.,
