TMED6
Description
The TMED6 (transmembrane p24 trafficking protein 6) is a protein-coding gene located on chromosome 16.
The p24 protein family consists of transmembrane proteins that are integral components of COPI and COPII-coated vesicles, which are involved in protein trafficking within the cell. These proteins are also known as EMP24/GP25L/p24 family and TMP21-like proteins. The p24 family members are localized to the endoplasmic reticulum and Golgi apparatus, playing a crucial role in transporting proteins between these two compartments. While some members of the family are non-essential for survival in yeast, certain members like TMED6 are essential in mammals. The p24 family has been implicated in the biogenesis of COPI and COPII-coated vesicles, the transport of membrane-bound proteins, and the structural integrity of the endoplasmic reticulum and Golgi apparatus. Most p24 family proteins exhibit widespread expression across various tissues.
TMED6, also known as p24 family protein gamma-5, is a transmembrane protein involved in the transport of proteins through the secretory pathway. It localizes to the endoplasmic reticulum and Golgi apparatus, playing a role in the formation of COPI and COPII-coated vesicles. These vesicles transport proteins between these compartments, crucial for proper protein folding and delivery. While not essential for survival in yeast, TMED6 has been shown to be essential in mammals, indicating its vital role in cellular function.
TMED6 is also known as PRO34237, SPLL9146, p24g5.
Associated Diseases
- glycine N-methyltransferase deficiency
- galactosemia 4
- annular pancreas
- pancreatic agenesis 2
- cholestasis, progressive familial intrahepatic, 9
- Senior-Boichis syndrome
- hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- progressive familial intrahepatic cholestasis type 3
- hyperinsulinemic hypoglycemia, familial, 2
