COPB2
Description
The COPB2 (COPI coat complex subunit beta 2) is a protein-coding gene located on chromosome 3.
Coatomer subunit beta is a protein encoded by the COPB2 gene in humans. The Golgi coatomer complex is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2. COPB2 interacts with COPB1, PRKCE, and RGS4.
The coatomer is a cytosolic protein complex that plays a crucial role in protein transport within the cell. It binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, facilitating the movement of biosynthetic proteins from the endoplasmic reticulum (ER) through the Golgi apparatus to the trans Golgi network. The coatomer complex is essential for budding from Golgi membranes, ensuring the retrograde transport of dilysine-tagged proteins back to the ER. In mammals, the coatomer requires the presence of ADP-ribosylation factors (ARFs), small GTP-binding proteins, to associate with membranes. Additionally, the coatomer contributes to maintaining the structural integrity of the Golgi, and it is involved in the processing, activity, and endocytic recycling of LDL receptors.
COPB2 is also known as MCPH19, OPDD, beta'-COP.
Associated Diseases
- Microcephaly 19, primary, autosomal recessive
- Autosomal recessive primary microcephaly
- Osteoporosis, childhood- or juvenile-onset, with developmental delay
