Zebrafish gene: pafah1b1a (lis1b)
Human gene: PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1)
Homology score: 93%
ClinVar variants: 118
Gene description: Predicted to have dynein complex binding activity and microtubule plus-end binding activity. Involved in brain morphogenesis. Localizes to cytoplasm. Is expressed in several structures, including gill; heart; liver; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in lissencephaly. Orthologous to human PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1).
ZFIN link: https://zfin.org/ZDB-GENE-040116-2
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000032013;r=15:25273185-25319663;t=ENSDART00000042218
Zebrafish reference(s): n/a
This gene has 3 transcripts (slice variants).
WT DNA sequence (mutation area: exon 5)
Mutant DNA sequence (mutation area: 8 bp deletion in exon 5)
Guide RNA target sites: n/a
Primers:
Forward primer: ctgacttttactagGTGATGGAG
Reverse primer: TATGACGCTGAAAACAGGATGG
WT Protein sequence
N = 88
