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)

More general terms

• glycoprotein
• membrane protein
• Ca+2 binding protein

Component of

• LMAN1 (ERGIC53) - MCFD2 complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=90411
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:90411
• OMIM: https://mirror.omim.org/entry/607788
• OMIM: https://mirror.omim.org/entry/613625
• UniProt: http://www.uniprot.org/uniprot/Q8NI22.html