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Description
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.
Specifications
Specifications
| Antigen | AHI1 |
| Applications | Western Blot |
| Classification | Polyclonal |
| Concentration | 0.18 mg/mL |
| Conjugate | Unconjugated |
| Formulation | PBS with 50% glycerol and 0.02% sodium azide; pH 7.3 |
| Gene | AHI1 |
| Gene Accession No. | Q8K3E5, Q8N157 |
| Gene Alias | AHI 1, AHI1, JBTS3, Jouberin, ORF1 |
| Gene Symbols | Ahi1 |
| Show More |
Product Title
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