AHI1, Official Symbol AHI1provided by HGNC Official Full Name Abelson helper integration site 1provided by HGNC Primary source HGNC:HGNC:21575 See related Ensembl:ENSG00000135541 MIM:608894; AllianceGenome:HGNC:21575 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ORF1; AHI-1; JBTS3; dJ71N10.1 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, Oct 2008] Expression Broad expression in testis (RPKM 9.3), adrenal (RPKM 5.6) and 25 other tissues See more Orthologs mouse all