Entrez 3614 | Ensembl ENSG00000106348 | |
 | ||
Aliases IMPDH1, IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608, IMP (inosine 5'-monophosphate) dehydrogenase 1, inosine monophosphate dehydrogenase 1 External IDs MGI: 96567 HomoloGene: 68096 GeneCards: IMPDH1 | ||
Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.
Contents
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.
Clinical significance
Defects in the IMPDH1 gene are a cause of retinitis pigmentosa type 10 (RP10).
References
IMPDH1 Wikipedia(Text) CC BY-SA