Synthesized phosho peptide around human HNF1α (Ser247)

This antibody detects endogenous levels of Human HNF1α (phospho-Ser247)

HNF1A TCF1

HNF1α (Ser247)

Hepatocyte nuclear factor 1-alpha ;
HNF-1-alpha ;
HNF-1A ;
Liver-specific transcription factor LF-B1 ;
LFB1 ;
Transcription factor 1 ;
TCF-1 ;

The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq , Apr 2015] ,

Disease:Defects in HNF1A are a cause of susceptibility to insulin-dependent diabetes mellitus (IDDM) [MIM:222100]. ,Disease:Defects in HNF1A are the cause of maturity onset diabetes of the young type 3 (MODY3) [MIM:600496]; also symbolized MODY-3. MODY [MIM:606391] is a form of diabetes characterized by an autosomal dominant mode of inheritance , age of onset of 25 years or younger and a primary defect in insulin secretion. The clinical phenotype of MODY3 is characterized by severe insulin secretory defects , and by major hyperglycemia associated with microvascular complications. ,Disease:Defects in HNF1A may predispose to hepatic adenomas [MIM:142330]. Hepatic adenomas are benign tumors at risk of malignant transformation. Bi-allelic inactivation of HNF1A , whether sporadic or associated with MODY3 , may be an early step in the developmant of some hepatocellular carcinomas. ,Function:Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. ,online information:Hepatocyte nuclear factors entry ,polymorphism:The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and insulin responses. ,similarity:Belongs to the HNF1 homeobox family. ,similarity:Contains 1 homeobox DNA-binding domain. ,subunit:Binds DNA as a dimer. ,tissue specificity:Liver. ,

Nucleus .

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