Entrez gene ID | | 54806 |
Official gene symbol | | AHI1 |
Full name | | Abelson helper integration site 1 |
Aliases | | ,AHI-1,DKFZp686J1653,FLJ14023,FLJ20069,JBTS3,ORF1,dJ71N10.1, |
Gene summary | | 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] |
Location | | Chromosome: 6 Locus: 6q23.3 |
Gene position | | 135818903 - 135605110 Map Viewer |
Gene orientation | | minus |
Gene size | | 213794 bp |
Gene sequence |
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OMIM ID | | 608894 |