LOVD JAG1 homepage

General information
Gene name jagged 1
Gene symbol JAG1
Chromosome Location 20p12.1-p11.23
Database location genome.igib.res.in
Curator Ruchika Sahajpal
Date of creation November 15, 2012
Last update November 15, 2012
Version JAG1 121115
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Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
NOTE Also known as:
AGS; AHD; AWS; HJ1; CD339; JAGL1
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.

Links to other resources
Homepage http://fishmap2.igib.res.in/tblovd
External link Ensembl
Entrez Gene 182
OMIM - Gene 601920
HGMD JAG1
GeneTests JAG1