MIA2
Description
The MIA2 (MIA SH3 domain ER export factor 2) is a protein-coding gene located on chromosome 14.
Melanoma inhibitory activity protein 2 is a protein that in humans is encoded by the MIA2 gene.
MIA2 plays a key role in the transport of large cargo molecules that cannot fit into standard COPII-coated vesicles. It facilitates the incorporation of these cargos into membrane-bound carriers, enabling their export from the endoplasmic reticulum. MIA2 is also involved in the secretion of lipoproteins, including pre-chylomicrons and pre-VLDLs, by mediating their export from the endoplasmic reticulum. This suggests a possible role for MIA2 in cholesterol and triglyceride homeostasis. Additionally, MIA2 is essential for the secretion of collagen VII (COL7A1), loading it into transport carriers and recruiting PREB/SEC12 at the endoplasmic reticulum exit sites.
MIA2 is also known as CTAGE5, MEA6, MGEA, MGEA11, MGEA6, TALI.
Associated Diseases
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- homozygous familial hypercholesterolemia
- pancreatic triacylglycerol lipase deficiency
- thyroid hormone metabolism, abnormal, 2
- hypoalphalipoproteinemia, primary, 1
- sitosterolemia
