Analysis of PEX19 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0552-LGZ)

Introduction

Official Full Name: peroxisomal biogenesis factor 19<br />Also known as: PXF; HK33; PMP1; PMPI; PXMP1; PBD12A; D1S2223E<br />This gene is required for early peroxisome biogenesis. It acts both as a cytoplasmic chaperone and as an import receptor for peroxisome membrane proteins (pmps). Peroxisomes (pex) are proteins required for functional peroxisome assembly. Peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive lethal disorders characterized by multiple functional defects of peroxisomes. These disorders have at least 14 complementation groups, and more than one phenotype is observed in some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients are defective in the import of one or more peroxisome matrix proteins to organelles. Defects in this gene are responsible for Zellweger syndrome (ZWS) as well as disorders of peroxisome biogenesis complementation group 14 (PBD-CG14), also known as PBD-CGJ. Alternative splicing results in multiple transcript variants.