Gene_Is_Element_In_Pathway
Gene_Found_In_Organism
CTRP Terminology
Human
CTRP Biomarker Terminology
CTRP Molecular Genetic Biomarker Terminology
Notch Proteolysis and Signaling Pathway
JAG1 Gene
JAG1 wt Allele
182
601920
A JAG1 gene mutation G821A produces a mixed population of the gene product in which a portion of the protein undergoes abnormal glycosylation and is retained within the cell. This decrease in the amount of protein that is found on the cell surface can result in Alagille syndrome-like cardiovascular defects without liver dysfunction. (OMIM)
AGS
AHD
AWS
C2697827
C75614
CD339
CTRP
Gene or Genome
HJ1
Human JAG1 wild-type allele is located within 20p12.1-p11.23 and is approximately 36 kb in length. This allele, which encodes protein jagged-1, may play a role in the progression of hematopoiesis. Mutation of the gene is associated with Alagille syndrome type 1 and tetralogy of Fallot.
JAG1 wt Allele
JAG1 wt Allele
JAG1 wt Allele
JAG1_wt_Allele
JAGL1
Jagged 1 (Alagille Syndrome) wt Allele
MGC104644
U61276
Notch Signaling Pathway