ATIC Antibody – Rabbit Polyclonal

This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]

ATIC: Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis. Defects in ATIC are the cause of AICAR transformylase/IMP cyclohydrolase deficiency (AICAR). A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA- ribotide and its derivatives in erythrocytes and fibroblasts. AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness. Belongs to the PurH family.

Protein type: Cofactor and Vitamin Metabolism - one carbon pool by folate; EC 3.5.4.10; Methyltransferase; Nucleotide Metabolism - purine; EC 2.1.2.3; Hydrolase

Chromosomal Location of Human Ortholog: 2q35

Cellular Component: cytosol; membrane; mitochondrion

Molecular Function: IMP cyclohydrolase activity; phosphoribosylaminoimidazolecarboxamide formyltransferase activity; protein homodimerization activity

Biological Process: 'de novo' IMP biosynthetic process; cerebellum development; cerebral cortex development; dihydrofolate metabolic process; nucleobase, nucleoside, nucleotide and nucleic acid metabolic process; nucleoside metabolic process; organ regeneration; purine ribonucleoside monophosphate biosynthetic process; response to inorganic substance; tetrahydrofolate biosynthetic process

Disease: Aicar Transformylase/imp Cyclohydrolase Deficiency