IMPDH1
Template:Short description Template:Cs1 config Template:Infobox gene Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.[1][2]
Function
IMP dehydrogenase 1 acts as a homotetramer to regulate cell growth. IMPDH1 is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides.[1]
Clinical significance
Defects in the IMPDH1 gene are a cause of retinitis pigmentosa type 10 (RP10).[1][3][4]
See also
References
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Further reading
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External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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