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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| AHI1-20-RE | 20 (40 μL) | 200 μL |  |
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| AHI1-20-OR | 20 (40 μL) | 200 μL |  |
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| AHI1-20-GO | 20 (40 μL) | 200 μL |  |
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| AHI1-20-GR | 20 (40 μL) | 200 μL |  |
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| AHI1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : AHI1
Gene Name : Abelson helper integration site 1
Chromosome : CHR 6: 135,497,774-135,283,971
Locus : 6q23.3
Alt. Genes : PREB
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