Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for AHI1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID54806
Official gene symbolAHI1
Full nameAbelson helper integration site 1
Aliases,AHI-1,DKFZp686J1653,FLJ14023,FLJ20069,JBTS3,ORF1,dJ71N10.1,
Gene summaryThis 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]
LocationChromosome: 6   Locus: 6q23.3
Gene position135818903 - 135605110  Map Viewer
Gene orientationminus
Gene size213794 bp
Gene sequence
OMIM ID608894