HEATR5B
Description
The HEATR5B (HEAT repeat containing 5B) is a protein-coding gene located on chromosome 2.
HEATR5B is a protein that plays a role in protein trafficking within cells. It is found in clathrin-coated vesicles, which are involved in transporting materials within cells. HEATR5B is also part of a complex called the aftiphilin/p200/gamma-synergin complex, which helps move proteins between different cellular compartments. Specifically, this complex facilitates the movement of transferrin (a protein that carries iron) from early endosomes to recycling endosomes. It also helps move furin (an enzyme involved in processing proteins) and cathepsin D (a lysosomal enzyme) between the trans-Golgi network (TGN) and endosomes.
HEATR5B is also known as p200, p200a.
Associated Diseases
- pontocerebellar hypoplasia
- type 2 diabetes mellitus
- cerebellar atrophy, developmental delay, and seizures
