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.
Abelson helper integration site 1 protein homolog; AHI-1; AHI-1 JBTS3 ORF1 dJ71N10.1 abelson helper integration site 1 protein homolog contatins SH3 and WD40 domains jouberin; contatins SH3 and WD40 domains; Jouberin
Cat # 13435407
100 µL
Cat # 15898673
100 µL
Cat # 16511492
100 µL
Cat # 13230139
100 µL
Cat # 13456367
100 µL
Cat # 15967874
100 µL
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