IMPDH1
Function
Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.
Involvement in disease
Retinitis pigmentosa 10
RP10
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
None
The disease is caused by variants affecting the gene represented in this entry.
Leber congenital amaurosis 11
LCA11
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Purine metabolism; XMP biosynthesis via de novo pathway; XMP from IMP: step 1/1.
Sequence Similarities
Belongs to the IMPDH/GMPR family.
Tissue Specificity
IMP type I is the main species in normal leukocytes and type II predominates over type I in the tumor.
Cellular localization
- Cytoplasm
- Nucleus
Alternative names
IMPD1, IMPDH1, Inosine-5'-monophosphate dehydrogenase 1, IMP dehydrogenase 1, IMPD 1, IMPDH 1, IMPDH-I