" /> JAG1 wt Allele - CISMeF





Preferred Label : JAG1 wt Allele;

NCIt synonyms : CD339; AGS; AWS; HJ1; MGC104644; Jagged 1 (Alagille Syndrome) wt Allele; JAGL1; AHD;

NCIt definition : 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.;

NCIt note : 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);

GenBank Accession Number : U61276;

Details


Keyword's position in hierarchy(ies) : arborescence

You can consult :


Nous contacter.
16/05/2024


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.