GENETIC ENCYCLOPEDIA
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gene: QPRT

id23475
symbolQPRT
organismHomo sapiens
full namequinolinate phosphoribosyltransferase
summaryThis 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]
variant-disease

GRCh37/hg19 16p11.2(chr16:29595483-29733872)x1 AND not provided

GRCh38/hg38 16p11.2(chr16:29581462-29720976)x4 AND See cases

NC_000016.9:g.(?_29651599)_(30199709_?)del AND Spondylocostal dysostosis 5

GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1 AND See cases

GRCh37/hg19 16p11.2(chr16:29567295-30177916)x1 AND See cases

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