| ncRNA Symbol: | AHI1 |
| Full Name: | Abelson helper integration site 1 |
| Category: | mRNA |
| Synonyms: | AHI-1|JBTS3|ORF1|dJ71N10.1 |
| Chromosome: | chr6 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 135283532 | End Site(bp): | 135497776 | |
| 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, Oct 2008] |
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