The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/1000 - 1/10000. Detects a band of approximately 65 kDa (predicted molecular weight: 65 kDa).
ab172730 - Rabbit monoclonal IgG, is suitable for use as an isotype control with this antibody.
1/40 - 1/60.
Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.
Purine metabolism; IMP biosynthesis via de novo pathway; 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide (10-formyl THF route): step 1/1. Purine metabolism; IMP biosynthesis via de novo pathway; IMP from 5-formamido-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide: step 1/1.
Involvement in disease
Defects in ATIC are the cause of AICA-ribosuria [MIM:608688]; also known as AICA-ribosiduria. AICA-ribosuria is a neurologically devastating inborn error of purine biosynthesis. AICA-ribosuria patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICA-ribosuria causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness.
Belongs to the purH family.
The IMP cyclohydrolase activity resides in the N-terminal region.
Flow cytometric analysis of 2% paraformaldehyde-fixed HeLa cells labeling ATIC with ab188321 at 1/140 dilution (red) compared to a Rabbit monoclonal IgG isotype control (green), followed by Goat anti rabbit IgG (FITC) secondary antibody at 1/150 dilution.