GTPBP4
Description
The GTPBP4 (GTP binding protein 4) is a protein-coding gene located on chromosome 10.
GTPBP4, or Nucleolar GTP-binding protein 1, is a protein that functions as a molecular switch. It exists in two states: active, when bound to GTP, and inactive, when bound to GDP. When GTP is bound, GTPBP4 triggers events within the cell. This process is similar to how G protein-coupled receptors (GPCRs) work: a ligand binds to the receptor, causing it to change shape and activate trimeric G proteins. These proteins release GDP and bind GTP, becoming active. Eventually, the G protein hydrolyzes GTP back to GDP, turning itself off. However, before this happens, the active protein can diffuse away from the receptor and deliver its signal to downstream targets.
GTPBP4 is involved in the formation of the 60S ribosomal subunit. It also acts as a suppressor of the TP53 protein, preventing it from stabilizing and causing cell cycle arrest.
GTPBP4 is also known as CRFG, NGB, NOG1.
Associated Diseases
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin D disease
- Griscelli syndrome type 3
- alpha thalassemia-intellectual disability syndrome type 1
- delta-beta-thalassemia
- hemoglobin E-beta-thalassemia syndrome
- dominant beta-thalassemia
- hemoglobin C-beta-thalassemia syndrome
