IMPDH2 Chromosome 3
Inosine monophosphate dehydrogenase 2
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What This Gene Does
This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Inosine monophosphate dehydrogenase family
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000178035
Associated Conditions (4)
IMPDH2-related neurodevelopmental condition
Dystonic disorder
IMPDH2 enzyme activity
variation in
Key Variants
RS2471630671
Conflicting classifications of pathogenicity
IMPDH2-related neurodevelopmental condition, IMPDH2-related neurodevelopmental condition
Health Risk
RS1330462697
Likely pathogenic
Dystonic disorder, Dystonic disorder
Health Risk
RS2471630299
Likely pathogenic
Health Risk
RS2471632340
Likely pathogenic
Dystonic disorder, Dystonic disorder
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2471630671 | Health Risk | Conflicting classifications of pathogenicity | IMPDH2-related neurodevelopmental condition, IMPDH2-related neurodevelopmental condition |
| RS1330462697 | Health Risk | Likely pathogenic | Dystonic disorder, Dystonic disorder |
| RS2471630299 | Health Risk | Likely pathogenic | — |
| RS2471632340 | Health Risk | Likely pathogenic | Dystonic disorder, Dystonic disorder |
| RS121434586 | Trait | Affects | IMPDH2 enzyme activity, variation in, IMPDH2 enzyme activity |