Zebrafish gene: pnpo
Human gene: PNPO (pyridoxine 5'-phosphate oxidase)
Homology score: 70%
ClinVar variants: 17
Gene description: Predicted to have pyridoxamine phosphate oxidase activity. Predicted to be involved in pyridoxal phosphate biosynthetic process. Human ortholog(s) of this gene implicated in pyridoxamine 5'-phosphate oxidase deficiency. Orthologous to human PNPO (pyridoxamine 5'-phosphate oxidase).
ZFIN link: http://zfin.org/ZDB-GENE-060602-2
Ensembl link: http://uswest.ensembl.org/Danio_rerio/Gene/Summary?g=ENSDARG00000017612;r=12:28799988-28807184;t=ENSDART00000022724
Zebrafish reference(s): Ciapaite J, Albersen M, Savelberg SMC, et al. Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations. Biochim Biophys Acta Mol Basis Dis. 2020;1866(3):165607. doi:10.1016/j.bbadis.2019.165607
This gene has 1 transcript (splice variant).
WT DNA sequence (mutation area: exon 3)
Mutant DNA sequence (mutation area: 14 bp deletion in exon 3)
Guide RNA target sites: taatacgactcactataGGAAGGACCATGCGTGCAGAgttttagagctagaa
Primers:
Forward primer: GCACGAACAGGTTTGCAACAAGTAC
Reverse primer: GACCTCACCAGCTCTGAACCTTTCC
WT Protein sequence
Representative mutant behavior data
N = 92
