Aliases for IMPDH1 Gene
External Ids for IMPDH1 Gene
Previous HGNC Symbols for IMPDH1 Gene
Previous GeneCards Identifiers for IMPDH1 Gene
The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
GeneCards Summary for IMPDH1 Gene
IMPDH1 (Inosine Monophosphate Dehydrogenase 1) is a Protein Coding gene. Diseases associated with IMPDH1 include Retinitis Pigmentosa 10 and Leber Congenital Amaurosis 11. Among its related pathways are Innate Immune System and purine nucleotides de novo biosynthesis. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is IMPDH2.
UniProtKB/Swiss-Prot Summary for IMPDH1 Gene
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.