Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, DGCR2

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, DGCR2

Definition : Molecular assay reagents intended to identify mutations in the DiGeorge syndrome critical region gene 2 (DGCR2) gene, located at chromosome 22q11, which putatively encodes for an adhesion receptor protein that may play a role in neural crest cell migration. This adhesion cell receptor could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration. Mutations at this locus have been identified in patients with a disease characterized by cardiac abnormality, T-cell defect, clefting, and hypocalcaemia (CATCH 22); DiGeorge syndrome; conotruncal anomaly face syndrome; and Shprintzen's syndrome (also known as velocardiofacial syndrome).

Entry Terms : "Cardiac defect, Abnormal Facies, Thymic Hypoplasia, Cleft Palate, Hypocalcaemia (CATCH22) Gene Mutation Reagents" , "CATCH22 Gene Mutation Detection Reagents" , "DGCR2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, DGCR2"

UMDC code : 24382

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