Full name: quinolinate phosphoribosyltransferase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HEL-S-90n; QPRTase

Summary: This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Expression: Broad expression in kidney (RPKM 60.9), liver (RPKM 33.8) and 14 other tissues

Gene size: 19692bp

Exon count: 4