multiple coagulation factor deficiency protein 2; neural stem cell-derived neuronal survival protein (MCFD2, SDNSF)

Function: - component of LMAN1-MCFD2 complex Structure: - essentially unstructured in the absence of Ca⁺² - requires Ca⁺² for folding - contains 2 EF-hand domains Compartment: - endoplasmic reticulum-Golgi intermediate compartment (ERGIC) Pathology: - defects in MCFD2 are a cause of multiple-coagulation-factor deficiency 2 (MCFD2)

General

Ca+2 binding protein glycoprotein membrane protein

Properties

SIZE: MW = 16 kD entity length = 146 aa COMPARTMENT: golgi endoplasmic reticulum MOTIF: signal sequence {1-26} glycosylation site membrane region EF hand SITE: 81-92 EF hand SITE: 129-140

Database Correlations

OMIM correlations MORBIDMAP 607788 UniProt Q8NI22 Entrez Gene 90411 Kegg hsa:90411

References

UniProt :accession Q8NI22