Ψ Uox - Trichechus manatus latirostris

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_RVJCSB Trichechus manatus latirostris LOF (frameshift, premature stop, ss) Full Yes PCR & Sanger Sequencing Single

Statements

Type Excerpt DOI
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 analysis also revealed that the manatee UOX has a 4 bp deletion in exon 4 and a stop codon in exon 5 (both supported by sequencing reads)." 10.1093/nargab/lqz012

Curator Observations

In humans UOX is a pseudogene.