Bioss Inc.'s ATIC/AICAR transformylase Antibody, Cy3 Conjugated is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, Immunohistochemistry - frozen, and Western Blot. The ATIC/AICAR transformylase Antibody, Cy3 Conjugated was generated using ATIC as the antigen and it reacts with Homo Sapiens, and Human.
Description
The bifunctional purine biosynthesis protein ATIC (also designated PURH) contains AICAR transformylase and IMP cyclohydrolase activities. AICAR (5-aminoimidazole-4-carboxamide ribonucleotide) transformylase catalyzes the second to last step in purine biosynthesis, playing an important role in the production of nucleotides and IMP. Defects in the ATIC transformylase gene can cause AICA-rebsuria, also designated AICA-ribosiduria, an inborn error in purine biosynthesis that is neurologically cataclysmic. Individuals with AICA-rebosuria accumulate AICA-riboside, also designated ZMP, and its derivatives in erythrocytes and fibroblasts. Patients also excrete very large amounts of AICA-riboside in the urine. Mental retardation, epilepsy, dysmorphic features and congenital blindness are all symptoms of this disease