ESYT3
Description
The ESYT3 (extended synaptotagmin 3) is a protein-coding gene located on chromosome 3.
ESYT3 binds to glycerophospholipids, suggesting a role in cellular lipid transport. It acts as a tether, connecting the endoplasmic reticulum to the cell membrane and promoting close interactions between these two structures.
ESYT3 is also known as CHR3SYT, E-Syt3, FAM62C.
Associated Diseases
- hemoglobin E-beta-thalassemia syndrome
- microcytic anemia with liver iron overload
- dehydrated hereditary stomatocytosis
- IRIDA syndrome
