ATIC è un gene codificato dal simbolo ATIC. Altri nomi includono: Bifunctional purine biosynthesis protein PURH; 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; AICAR transformylase; IMP synthase; Inosinicase; PURH. ATIC ha una massa di 64.62kDa, una lunghezza di amminoacidi di 592, ed è implicato in AICAR transformylase/IMP cyclohydrolase deficiency.
Offriamo 7 anticorpi contro ATIC, allevati nel Coniglio e Topo, che sono adatti per WB, IHC e ICC/IF con campioni derivati da Umano, Topo, Ratto e Coniglio.
Informazioni su geni e proteine
Riepilogo UniProt
Bifunctional enzyme that catalyzes 2 steps in purine biosynthesis.
Sommario di Entrez
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.
Coinvolgimento nella malattia
AICAR transformylase/IMP cyclohydrolase deficiency: 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.
Somiglianze di sequenza
Belongs to the PurH family.
