IMPDH1


Description

The IMPDH1 (inosine monophosphate dehydrogenase 1) is a protein-coding gene located on chromosome 7.

Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme encoded by the IMPDH1 gene. As a homotetramer, it regulates cell growth by catalyzing the conversion of inosine-5'-monophosphate (IMP) to xanthine monophosphate (XMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in the IMPDH1 gene are linked to retinitis pigmentosa type 10 (RP10).

IMPDH1 is also known as IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608.

Associated Diseases


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