Gene Symbol | JAG1 |
Entrez Gene ID | 182 |
Full Name | jagged 1 |
Synonyms | AGS,AGS1,AHD,AWS,CD339,HJ1,JAGL1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Alagille syndrome 1, 118450 (3); Tetralogy of Fallot, 187500 (3); ?Deafness, congenital heart defects, and posterior embryotoxon (3) |