PLEKHM2
Description
The PLEKHM2 (pleckstrin homology and RUN domain containing M2) is a protein-coding gene located on chromosome 1.
PLEKHM2, also known as Pleckstrin homology domain-containing family M member 2, is a protein encoded by the PLEKHM2 gene in humans.
PLEKHM2 plays a key role in the movement and localization of lysosomes within cells. It acts as an effector of ARL8B, a small GTPase, and is essential for ARL8B's influence on lysosome positioning. PLEKHM2 recruits kinesin-1 to lysosomes, directing their movement towards microtubule plus ends. This interaction between PLEKHM2 and ARL8B bridges lysosomal membranes to plus-end-directed motility. Furthermore, PLEKHM2 is crucial for NK cell-mediated cytotoxicity, driving the polarization of cytolytic granules and microtubule-organizing centers (MTOCs) towards the immune synapse between NK lymphocytes and target cells. It also contributes to the maintenance of the Golgi apparatus organization and may play a role in membrane tubulation.
PLEKHM2 is also known as SKIP.
Associated Diseases
- type 2 diabetes mellitus
- hemoglobin E-beta-thalassemia syndrome
- X-linked severe congenital neutropenia
- hemoglobin D disease
- alpha-thalassemia-myelodysplastic syndrome
- dehydrated hereditary stomatocytosis
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- primary familial polycythemia due to EPO receptor mutation
- dominant beta-thalassemia
- hemoglobin E disease
- immunodeficiency 69
- diabetes mellitus, permanent neonatal 4
- common variable immunodeficiency
- hemoglobin C-beta-thalassemia syndrome
