Full name: inosine monophosphate dehydrogenase 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: IMPD; IMPD1; IMPDH-I; LCA11; RP10; 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

Gene size: 17706bp

Exon count: 18