| Functional |
"The pathway that degrades uric acid (end product of purinemetabolism) to allantoin consists of three enzymes (36): urate (the salt of uric acid at physiological pH) is oxidized byUOXtoHIU (5-hydroxyisourate); URAH converts HIU to OHCU (2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline); and OHCU is converted by URAD to allantoin, which is excreted in urine." |
10.1093/nargab/lqz012 |
| Mutation Description |
"Our gene loss data showed that elephants have lost URAD. Based on this observation, we manually inspected the other two genes in the uric acid degradation pathway (Uox and Urah) in elephant using the mouse 60-way genome alignment provided by UCSC (37). This revealed that elephant UOX has a stop codon in exon 3, which is supported by several raw Sanger sequencing reads stored in the NCBI trace archive." |
10.1093/nargab/lqz012 |
| Phenotypic |
"Both African and Asian elephants (Elephas Maximus) have very low serum uric acid levels of 0.2 and 0.22 mg/dl, respectively (110,111)." |
10.1093/nargab/lqz012 |