0.1M Tris, 0.1M Glycine, 10% Glycerol (pH7). 0.01% Thimerosal was added as a preservative.
Store as concentrated solution. Centrifuge briefly prior to opening vial. For short-term storage (1-2 weeks), store at 4ºC. For long-term storage, aliquot and store at -20ºC or below. Avoid multiple freeze-thaw cycles.
Carrier-protein conjugated synthetic peptide encompassing a sequence within the N-terminus region of human AHI1. The exact sequence is proprietary.
Purified by antigen-affinity chromatography.
For In vitro laboratory use only. Not for any clinical, therapeutic, or diagnostic use in humans or animals. Not for animal or human consumption.
AHI-1 antibody, DKFZp686J1653 antibody, FLJ14023 antibody, FLJ20069 antibody, JBTS3 antibody, ORF1 antibody, dJ71N10.1 antibody, AHI1 antibody, abelson helper integration site 1 protein homolog antibody, contatins SH3 and WD40 domains antibody, jouberin antibody, Abelson helper integration site 1 antibody
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. [provided by RefSeq]