Literature associating IMPDH1 and Leber congenital amaurosis 8
IMP (inosine 5'-monophosphate) dehydrogenase 1; 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; Belongs to the IMPDH/GMPR family.
Synonyms: IMPDH1, IMPDH1p, hIMPDH1, A0A024R725, C9J029 ...