Zebrafish gene: pafah1b1b (lis1a)
Human gene: PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1)
Homology score: 92%
ClinVar variants: 118
Gene description: Predicted to have dynein complex binding activity and microtubule plus-end binding activity. Involved in several processes, including apical protein localization; brain morphogenesis; and photoreceptor cell maintenance. 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-040116-3
Ensembl link: https://uswest.ensembl.org/Danio_rerio/Gene/Summary?db=core;g=ENSDARG00000026595;r=21:39423974-39454192;t=ENSDART00000031470
Zebrafish reference(s): n/a
This gene has 2 transcripts (splice variants).
WT DNA sequence (mutation area: exon 8)
Mutant DNA sequence (mutation area: 10 bp deletion in exon 8)
Guide RNA target sites: n/a
Primers:
Forward primer: TTACTGCGTGAAGACGTTCACAGGTC*
Reverse primer: CTCAGAGCCTGTGGCCTCGGATATAG*
WT Protein sequence
N = 127
