IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Deletion, AGPAT2
Definition : Molecular assay reagents intended to identify deletions in the AGPAT2 gene (formerly Berardinelli-Seip congenital lipodystrophy 1, BSCL1 gene), located in 9q34.3, that encodes for the enzyme lysophosphatidic acid acyltransferase (beta), which catalyzes the conversion of lysophosphatidic acid to phosphatidic acid, thus metabolizing lipids/lipoproteins. Inherited deletions are the cause of congenital generalized lipodystrophy (CGL1), also known as Berardinelli-Seip congenital lipodystrophy type 1.
Entry Terms : "Bernarelli-Seip Congenital Liposystrophy Type 1 Diagnostic Reagents" , "BSCL1 Gene Deletion Detection Reagents" , "AGPAT2 Gene Deletion Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Deletion, AGPAT2"
UMDC code : 24174