Analysis of PLEKHM2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1365-LGZ)

Introduction

Official Full Name: pleckstrin homology and RUN domain containing M2
Also known as: SKIP
This gene encodes a protein that binds the plus-end-directed microtubule motor protein kinase and the lysosomal GTPase AR18 and is required for the distribution of lysosomes away from the microtubule organizing center. The encoded protein belongs to the multisubunit block-1-associated complex that regulates lysosomal localization. It binds a Salmonella effector protein, termed Salmonella-induced filament a, which is a key host determinant of Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction.