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; Abelson helper integration site 1 protein homolog; AHI 1; AHI-1; AHI1; contatins SH3 and WD40 domains; JBTS3; Jouberin; ORF1
Gene Aliases: 1700015F03Rik; AHI-1; AHI1; D10Bwg0629e; dJ71N10.1; JBTS3; ORF1
UniProt ID: (Human) Q8N157