multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
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Diagnostic Grade (Green)
Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomalCombined factor V and VIII deficiency
BIALLELIC, autosomal or pseudoautosomalInherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomalcombined deficiency of factor V and factor VIII
neurodegenerative disease
multiple intestinal atresia
factor V and factor VIII, combined deficiency of, type 1
autoimmune disorder of central nervous system
Thrombocytopenia
Abnormal bleeding
severe combined immunodeficiency
gastrointestinal defect and immunodeficiency syndrome
Reduced von Willebrand factor activity
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Multiple coagulation factor deficiency protein 2
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
MCFD2 · Q8NI22
Mean pLDDT
76.2/ 100
Confident
146 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
