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Highest antigen sequence indentity to the following orthologs: Mouse (88%), Rat (88%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-65106. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Abelson helper integration site 1 protein homolog; AHI-1; contatins SH3 and WD40 domains; Jouberin; RP1-32B1.2
基因别名: AHI-1; AHI1; dJ71N10.1; JBTS3; ORF1
UniProt ID: (Human) Q8N157
Entrez Gene ID: (Human) 54806