IMPDH1


Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.

Function

IMP dehydrogenase 1 acts as a homotetramer to regulate cell growth. IMPDH1 is an enzyme that catalyzes the synthesis of xanthine monophosphate from inosine-5'-monophosphate. This is the rate-limiting step in the de novo synthesis of guanine nucleotides.

Clinical significance

Defects in the IMPDH1 gene are a cause of retinitis pigmentosa type 10.