Kalpana Kalpana (Editor)

IMPDH1

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Species
  
Human

Entrez
  
3614

Human
  
Mouse

Ensembl
  
ENSG00000106348

IMPDH1

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