Species Human Entrez 90411 | Human Mouse Ensembl ENSG00000180398 | |
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Aliases MCFD2, F5F8D, F5F8D2, LMAN1IP, SDNSF, multiple coagulation factor deficiency 2 External IDs MGI: 2183439 HomoloGene: 44552 GeneCards: MCFD2 | ||
Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene. Mutations in MCFD2 cause the combined deficiency of factor V and factor VIII (F5F8D), a recessive bleeding disorder. MCFD2 and ERGIC-53 (or LMAN1) form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the Golgi body. Mutations in LMAN1 gene (encoding ERGIC-53 or LMAN1) also cause F5F8D.
References
MCFD2 Wikipedia(Text) CC BY-SA