ARI3B Rabbit Polyclonal Antibody, 20ul Measuring Instruments Severe mutations that cause LPL

Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia

The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family| a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane

and is essential in preventing mitochondrial Ca2+ overload

The former is predominant at birth

ARI3B Rabbit Polyclonal Antibody, 20ul Measuring Instruments Severe mutations that cause LPLThis gene encodes a member of the ARID (AT rich interaction domain) family of DNA binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional