Recommended positive controls: IMR32.
Predicted reactivity: Mouse (89%), Rat (88%).
Store product as a concentrated solution. Centrifuge briefly prior to opening the vial.
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.
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Protein Aliases: Abelson helper integration site 1 protein homolog; AHI-1; contatins SH3 and WD40 domains; Jouberin; RP1-32B1.2
Gene Aliases: AHI-1; AHI1; dJ71N10.1; JBTS3; ORF1
UniProt ID: (Human) Q8N157
Entrez Gene ID: (Human) 54806