| Protein Name | Abelson helper integration site 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 54806 |
| Gene Symbol | AHI1 |
| UniProt | Q8N157 (AHI1_HUMAN), Q8NER0 (Q8NER0_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
20
Total Number of Articles : 14 |
Description |
Abelson helper integration site 1 |
| 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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| Properties | |