Zebrafish gene: st3gal3b
Human gene: ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3)
Homology score: 82%
ClinVar variants: 3
Gene description: Predicted to have N-acetyllactosaminide alpha-2,3-sialyltransferase activity. Predicted to be involved in protein glycosylation. Predicted to localize to Golgi apparatus and integral component of membrane. Is expressed in several structures, including cardiovascular system; corpuscles of Stannius; hypochord; pleuroperitoneal region; and ventral mesoderm. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability and early infantile epileptic encephalopathy 15. Orthologous to human ST3GAL3 (ST3 beta-galactoside alpha-2,3-sialyltransferase 3).
ZFIN link: https://zfin.org/ZDB-GENE-050411-13
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000015252;r=2:17267660-17393216;t=ENSDART00000123137
Zebrafish reference(s): n/a
This gene has 6 transcripts (splice variants).
WT DNA sequence (mutation area: exon 8)
Mutant DNA sequence (mutation area: 12 bp insertion in exon 8)
Guide RNA target sites: taatacgactcactataGGCTTCTGGATGGCCCCCTCgttttagagctagaa
Primers:
Forward primer: GGCAATGGCGGTATCCTTAGC
Reverse primer: TGTAGACCATCTGTCTCAGCC
WT Protein sequence
N = 103
