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  Domain Name: AICARFT_IMPCHas
AICARFT/IMPCHase bienzyme. This is a family of bifunctional enzymes catalyzing the last two steps in de novo purine biosynthesis. The bifunctional enzyme is found in both prokaryotes and eukaryotes. The second last step is catalyzed by 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase EC:2.1.2.3 (AICARFT), this enzyme catalyzes the formylation of AICAR with 10-formyl-tetrahydrofolate to yield FAICAR and tetrahydrofolate. This is catalyzed by a pair of C-terminal deaminase fold domains in the protein, where the active site is formed by the dimeric interface of two monomeric units. The last step is catalyzed by the N-terminal IMP (Inosine monophosphate) cyclohydrolase domain EC:3.5.4.10 (IMPCHase), cyclizing FAICAR (5-formylaminoimidazole-4-carboxamide ribonucleotide) to IMP.
No pairwise interactions found for the domain AICARFT_IMPCHas

Total Mutations Found: 1
Total Disease Mutations Found: 1
This domain occurred 1 times on human genes (1 proteins).



  AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY


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   Protein ID            Protein Position

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No Conserved Features/Sites Found for AICARFT_IMPCHas














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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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