Pseudouridine-5'-phosphatase (PUDP)

Pseudouridine-5'-phosphatase (PUDP) is an enzyme encoded by the PUDP gene (*HDHD1/HDHD1A*) on the X chromosome. It catalyzes the dephosphorylation of pseudouridine 5′-phosphate, a modified nucleotide and potential intermediate in ribosomal RNA (rRNA) degradation. The removal of the phosphate allows pseudouridine to be excreted intact in urine. While the primary substrate is pseudouridine 5'-phosphate, the enzyme can also act on other phosphorylated metabolites but with lower affinity. Mutations or deletions in this gene have been associated with X-linked ichthyosis and tricuspid valve stenosis[8][2][7][6][1].

Other names

Pseudouridine-5'-phosphatasePUDPHDHD1HDHD1AFAM16AXGS1DXF68S1EPseudouridine-5'-monophosphatase5'-PsiMPaseHaloacid dehalogenase-like hydrolase domain-containing protein 1Haloacid dehalogenase-like hydrolase domain-containing protein 1Afamily with sequence similarity 16 member A X-linked