IMPDH1

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolIMPDH1
Nameinosine monophosphate dehydrogenase 1
Typeprotein-coding
Sourcemygene

Summary

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].

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