Zebrafish gene: epm2a
Human gene: EPM2A (EPM2A glucan phosphatase, laforin)
Homology score: 52%
ClinVar variants: 18
Gene description: Predicted to have protein tyrosine phosphatase activity. Predicted to be involved in protein dephosphorylation. Predicted to localize to cytoplasm and nucleus. Human ortholog(s) of this gene implicated in Lafora disease and progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin).
ZFIN link: https://zfin.org/ZDB-GENE-100922-143
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000059044;r=23:1526708-1557195;t=ENSDART00000136436
Zebrafish reference(s): n/a
Sequences:
This gene has 1 transcript (splice variant).
WT DNA sequence (mutation area: exon 2)
Mutant DNA sequence (mutation area: 7 bp deletion in exon 2)
Guide RNA target sites: n/a
Primers:
Forward primer: tacctcaatctgTGGGATCTGG
Reverse primer: tacCTTCCCAAATGAAGTCCC
WT Protein sequence
N = 86
