IMPDH1, Official Symbol IMPDH1provided by HGNC Official Full Name inosine monophosphate dehydrogenase 1provided by HGNC Primary source HGNC:HGNC:6052 See related Ensembl:ENSG00000106348 MIM:146690; AllianceGenome:HGNC:6052 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IMPD; RP10; IMPD1; LCA11; IMPDH-I; sWSS2608 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] Expression Ubiquitous expression in fat (RPKM 19.1), appendix (RPKM 15.8) and 24 other tissues See more Orthologs mouse all