Entrez gene ID | | 182 |
Official gene symbol | | JAG1 |
Full name | | jagged 1 (Alagille syndrome) |
Aliases | | ,AGS,AHD,AWS,CD339,HJ1,JAGL1,MGC104644, |
Gene summary | | The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq] |
Location | | Chromosome: 20 Locus: 20p12.1-p11.23 |
Gene position | | 10654694 - 10618332 Map Viewer |
Gene orientation | | minus |
Gene size | | 36363 bp |
Gene sequence |
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OMIM ID | | 601920 |