Zebrafish gene: slc2a1a
Human gene: SLC2A1 (solute carrier family 2 member 1)
Homology score: 83%
ClinVar variants: 133
Gene description: Exhibits glucose transmembrane transporter activity. Involved in several processes, including endothelial cell development; glucose import; and vasculature development. Predicted to localize to plasma membrane. Is expressed in several structures, including cranial vasculature; liver; nervous system; otic vesicle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in brain disease (multiple); carbohydrate metabolic disorder; myelomeningocele; obesity; and type 2 diabetes mellitus. Orthologous to human SLC2A1 (solute carrier family 2 member 1).
ZFIN link: https://zfin.org/ZDB-GENE-030131-3158
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000001437;r=23:22200467-22212635;t=ENSDART00000025414
Zebrafish reference(s): n/a
This gene has 1 transcript (splice variant).
WT DNA sequence (mutation area: exon 3)
Mutant DNA sequence
Guide RNA target sites: taatacgactcactataGGTGTGGTTAGAGTGGTCGGgttttagagctagaa
Primers:
Forward primer: CGAGGGCTTCTACAATGAGACGTG*
Reverse primer: GCAGCAGCTATGAAGGCCAGAATG*
WT Protein sequence
N = 82
