Gene Symbol | AHI1 |
Entrez Gene ID | 54806 |
Full Name | Abelson helper integration site 1 |
Synonyms | AHI-1,JBTS3,ORF1,dJ71N10.1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Joubert syndrome 3, 608629 (3) |