Impdh1 Gene Inosine Monophosphate Dehydrogenase 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
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| Attribute | Value |
|---|---|
| Gene Symbol | IMPDH1 |
| Gene Name | Inosine Monophosphate Dehydrogenase 1 |
| Official Full Name | Inosine-5'-monophosphate dehydrogenase 1 |
| Chromosomal Location | 7q31.3 |
| GRCh38 Coordinates | chr7:128,046,828-128,063,125 |
| NCBI Gene ID | 3616 |
| OMIM ID | 146690 |
| Ensembl ID | ENSG00000100359 |
| UniProt ID | P20839 |
| Gene Family | IMP dehydrogenase family |
The IMPDH1 gene encodes inosine monophosphate dehydrogenase 1, a rate-limiting enzyme in de novo purine nucleotide synthesis.[1] IMPDH catalyzes the NAD+-dependent oxidation of IMP to XMP, the committed step in GTP biosynthesis. IMPDH1 is widely expressed and mutations cause photoreceptor degeneration (RP), while altered expression is implicated in cancer and potentially neurodegenerative diseases.
IMPDH catalyzes the committed step in GTP synthesis:[2]
IMP + NAD+ + H2O → XMP + NADH + H+
XMP + ATP → GMP (via GMP synthetase)
| Isoform | Expression | Notes |
|---|---|---|
| IMPDH1 | Ubiquitous, retina | RP-causing mutations |
| IMPDH2 | Proliferating cells | Cancer target |
Mutations in IMPDH1 cause autosomal dominant RP:[3]
Potential roles in neurodegenerative diseases:
| Variant | Effect | Clinical |
|---|---|---|
| p.D226N | Missense | RP |
| p.R224P | Missense | RP |
| p.R105W | Missense | RP |
| p.K238R | Missense | Common polymorphism |
IMPDH1 interacts with:
| Agent | Mechanism | Application |
|---|---|---|
| Mycophenolic acid | IMPDH inhibitor | Immunosuppression |
| Tiazofurin | IMPDH inhibitor | Cancer trials |
| Ribavirin | IMPDH inhibitor | Antiviral |
| AVM-E | IMPDH activator | Research |
The study of Impdh1 Gene Inosine Monophosphate Dehydrogenase 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Last updated: March 2026