DISEASES

Disease-gene associations mined from literature

Literature associating IMPDH1 and Leber congenital amaurosis

IMPDH1 [ENSP00000345096]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM