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JAG1 wt Allele

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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. [ ]

Term info

Label

JAG1 wt Allele

Synonyms
  • AGS
  • AHD
  • AWS
  • CD339
  • HJ1
  • JAG1 wt Allele
  • JAGL1
  • Jagged 1 (Alagille Syndrome) wt Allele
  • MGC104644
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

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)

Display Name

JAG1 wt Allele

Legacy Concept Name

JAG1_wt_Allele

OMIM Number

601920

Preferred Name

JAG1 wt Allele

Semantic Type

Gene or Genome

UMLS CUI

C2697827

code

C75614