HNF1 alpha(Phospho-Ser247) Rabbit Polyclonal Antibody, 50ul Live Cell Imaging Also interacts with mutant SOD1

Also interacts with mutant SOD1

Tay-Sachs disease and Marfan syndrome are all associated with defects in chromosome 15-localized genes

The protein encoded by this gene resides in the mitochondria| and is essential for SDH assembly| but does not physically associate with the complex in vivo

it encodes telokin

The protein is found in the plasma and regulates red cell production by promoting erythroid differentiation and initiating hemoglobin synthesis

HNF1 alpha(Phospho-Ser247) Rabbit Polyclonal Antibody, 50ul Live Cell Imaging Also interacts with mutant SOD1The 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