IMPDH1( Human )

Entrez Gene 3614 Entrez Gene 3614
inosine monophosphate dehydrogenase 1

Alias

IMPD|IMPD1|IMPDH-I|LCA11|RP10|sWSS2608

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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