RAB3IL1
Description
The RAB3IL1 (RAB3A interacting protein like 1) is a protein-coding gene located on chromosome 11.
RAB3IL1 is a guanine nucleotide exchange factor (GEF) that activates RAB3A, a GTPase involved in regulating synaptic vesicle exocytosis. It facilitates the exchange of GDP for GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. RAB3IL1 may also activate RAB8A and RAB8B.
RAB3IL1 is also known as GRAB.
Associated Diseases
- schizophrenia
- hemoglobin D disease
- primary familial polycythemia due to EPO receptor mutation
- dehydrated hereditary stomatocytosis
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- dominant beta-thalassemia
- hemoglobin E disease
- hemoglobin E-beta-thalassemia syndrome
- delta-beta-thalassemia
