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FLASH GENE

Symbol

JAG1

contributors: mct - updated : 03-07-2019

HGNC name	jagged 1
HGNC id	6188

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ALGS , ICHD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in proliferating hemangiomas constitutional germinal mutation     loss of function silencing mutations in JAG1 gene may play crucial roles in the pathogenesis of Tetralogy of Fallot tumoral     --over   significant over-expression of ligand JAG1 in the vast majority of Medulloblastoma (MB)

Susceptibility

Variant & Polymorphism

Candidate gene	candidate for BMD regulation in different ethnic groups, and it is a potential key factor for fracture pathogenesis
Marker	JAG1/NOTCH3 is expected to be an important signaling pathway for TNBC (Triple-negative breast cancer) progression
Therapy target
	System Type Disorder Pubmed cancer digestive colon inhibitors for Jagged1-mediated Notch activation [i.e., inhibitors of glycosil-transferases that modulate Notch/Notch-ligand interaction would be a new promising strategy for Colorectal cancer therapy osteoarticular     transient NOTCH1 inhibition by soluble JAG1 could be used to enhance Placenta-derived mesenchymal stromal cells (PMSCs) survival and chondrogenic differentiation, thereby increasing the therapeutic potential of PMSCs for cartilage regeneration cancer digestive   JAG1-NOTCH1 interference provides therapeutic benefit in a subset of colorectal cancer and FAP syndrome patients cancer angiogenesis   JAG1/NOTCH3 is expected to be a potential target for TNBC neovascularization therapy neuromuscular myopathy   JAG1 may represent a target for DMD therapy in a dystrophin-independent manner cancer brain   JAG1 mediates pro-proliferative signals via activation of NOTCH2 receptor and induction of HES1 expression, thus representing an attractive therapeutic targetin medulloblastomas

ANIMAL & CELL MODELS

endothelial-specific deletion of Jag1 leads to cardiovascular defects in both embryonic and adult mice that are reminiscent of those in Alagille syndrome