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 Drug metabolism - cytochrome P450. 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 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.