HNF1 alpha(Phospho-Ser247) Rabbit Polyclonal Antibody, 50ul Live Cell Imaging Tay-Sachs disease and Marfan syndrome

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

The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus

it encodes telokin

ASF1A encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast

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HNF1 alpha(Phospho-Ser247) Rabbit Polyclonal Antibody, 50ul Live Cell Imaging Tay-Sachs disease and Marfan syndromeThe 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