MCFD2
Domain
Essentially unstructured in the absence of calcium ions. Requires calcium ions for folding.
Function
The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors.
Involvement in disease
Factor V and factor VIII combined deficiency 2
F5F8D2
A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Endoplasmic reticulum-Golgi intermediate compartment
- Endoplasmic reticulum
- Golgi apparatus
Alternative names
SDNSF, MCFD2, Multiple coagulation factor deficiency protein 2, Neural stem cell-derived neuronal survival protein