IMPDH2 enzyme activity, variation in(IMPDH2V)

MedGen UID:: 854804
•Concept ID:: C3888196
•: Finding

Synonym:	IMPDH2V

Gene (location): Gene(s) directly associated with this condition or phenotype.	IMPDH2 (3p21.31)

OMIM®:	617995

Definition

Variation in the activity of inosine 5-prime-monophosphate dehydrogenase-2 (IMPDH2), required for purine synthesis in activated lymphocytes, may influence response to the prodrug mycophenolate mofetil (MMF), which is used to prevent allograft rejection in solid organ transplantation and as an immunomodulator in diseases that affect the immune system (Wang et al., 2007). [from OMIM]

Recent clinical studies

Etiology

Interpatient variability in IMPDH activity in MMF-treated renal transplant patients is correlated with IMPDH type II 3757T > C polymorphism.

Sombogaard F, van Schaik RH, Mathot RA, Budde K, van der Werf M, Vulto AG, Weimar W, Glander P, Essioux L, van Gelder T
Pharmacogenet Genomics 2009 Aug;19(8):626-34. doi: 10.1097/FPC.0b013e32832f5f1b. PMID: 19617864

IMPDH1 promoter mutations in a patient exhibiting azathioprine resistance.

Roberts RL, Gearry RB, Barclay ML, Kennedy MA
Pharmacogenomics J 2007 Oct;7(5):312-7. Epub 2006 Oct 17 doi: 10.1038/sj.tpj.6500421. PMID: 17001353

See all (2)