RAB43
Description
The RAB43 (RAB43, member RAS oncogene family) is a protein-coding gene located on chromosome 3.
RAB43, a small GTPase, plays a critical role in regulating intracellular membrane trafficking. It cycles between an inactive GDP-bound state and an active GTP-bound state, which allows it to interact with different effectors involved in vesicle formation, movement, tethering, and fusion. Its low intrinsic GTPase activity is activated by the enzyme USP6NL. RAB43 is involved in retrograde transport from the endocytic pathway back to the Golgi apparatus, as well as in the transport of Shiga toxin from early and recycling endosomes to the trans-Golgi network. It is essential for maintaining the structural integrity of the Golgi complex and participates in the maturation of phagosomes that engulf pathogens like Staphylococcus aureus and Mycobacterium tuberculosis. (PMID: 17562788, 17684057, 18664496, 21255211)
RAB43 is also known as RAB11B, RAB41.
Associated Diseases
- muscular dystrophy
- hemoglobin D disease
- cholesterol-ester transfer protein deficiency
- hypertriglyceridemia 2
- sitosterolemia
- dominant beta-thalassemia
- hemoglobin E-beta-thalassemia syndrome
- glycogen storage disease VI
- hemoglobin E disease
- hemoglobin H disease
- combined oxidative phosphorylation deficiency 41
- glycogen storage disease IXa1
- familial apolipoprotein C-II deficiency
- hemoglobin C-beta-thalassemia syndrome
- congenital dyserythropoietic anemia type 4
- homozygous familial hypercholesterolemia
- thyroid hormone metabolism, abnormal, 2
