IMPDH1
Inosine-5'-monophosphate dehydrogenase 1 (IMPDH1) is an enzyme that in humans is encoded by the IMPDH1 gene. IMPDH1 is a member of the IMPDH/GMPR family, which includes IMP (inosine monophosphate) dehydrogenase types I and II, and GMP reductase. These enzymes are involved in purine metabolism, which is integral to the production of DNA and RNA.
Function[edit | edit source]
IMPDH1 catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthosine-5'-monophosphate, which is a critical step in the purine biosynthesis pathway. This enzyme is a determinant of the intracellular concentration of guanine nucleotides.
Clinical significance[edit | edit source]
Mutations in the IMPDH1 gene are associated with retinitis pigmentosa type 10 (RP10). The IMPDH1 gene has also been linked to Leber congenital amaurosis (LCA), an inherited retinal degenerative disease that results in severe vision loss at an early age.
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References[edit | edit source]
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